Mutagenetix > Incidental Mutation

Incidental Mutation 'R1762:Cd74'

193147

Institutional Source

Beutler Lab

Gene Symbol

Cd74

Ensembl Gene

ENSMUSG00000024610

Gene Name

CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)

Synonyms

CLIP, Ii

MMRRC Submission

039794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R1762 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60936921-60945724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60944390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 200 (V200A)

Ref Sequence

ENSEMBL: ENSMUSP00000126688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050487] [ENSMUST00000097563] [ENSMUST00000163446] [ENSMUST00000167610] [ENSMUST00000175934] [ENSMUST00000176630]

AlphaFold

P04441

Predicted Effect

probably benign
Transcript: ENSMUST00000050487

SMART Domains

Protein: ENSMUSP00000057836
Gene: ENSMUSG00000024610

Domain	Start	End	E-Value	Type
Pfam:MHC2-interact	1	112	2.8e-40	PFAM
Pfam:MHCassoc_trimer	119	190	6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097563
AA Change: V200A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095171
Gene: ENSMUSG00000024610
AA Change: V200A

Domain	Start	End	E-Value	Type
Pfam:MHC2-interact	1	112	5.3e-40	PFAM
Pfam:MHCassoc_trimer	119	190	6.7e-36	PFAM
TY	212	258	8.6e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163446

SMART Domains

Protein: ENSMUSP00000130454
Gene: ENSMUSG00000024613

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
Pfam:Treacle	108	322	2.2e-8	PFAM
Pfam:Treacle	321	793	4.6e-204	PFAM
low complexity region	819	834	N/A	INTRINSIC
low complexity region	855	874	N/A	INTRINSIC
low complexity region	879	893	N/A	INTRINSIC
low complexity region	916	927	N/A	INTRINSIC
low complexity region	967	977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167610
AA Change: V200A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126688
Gene: ENSMUSG00000024610
AA Change: V200A

Domain	Start	End	E-Value	Type
Pfam:MHC2-interact	1	112	5.8e-45	PFAM
Pfam:MHCassoc_trimer	119	187	1.7e-34	PFAM
TY	212	258	8.6e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175586

Predicted Effect

probably benign
Transcript: ENSMUST00000175934

SMART Domains

Protein: ENSMUSP00000135639
Gene: ENSMUSG00000024613

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
low complexity region	75	109	N/A	INTRINSIC
Pfam:Treacle	153	329	1.6e-12	PFAM
Pfam:Treacle	321	792	6.1e-175	PFAM
Pfam:Treacle	782	936	3.2e-16	PFAM
low complexity region	969	982	N/A	INTRINSIC
low complexity region	1025	1039	N/A	INTRINSIC
low complexity region	1060	1074	N/A	INTRINSIC
low complexity region	1149	1172	N/A	INTRINSIC
low complexity region	1260	1285	N/A	INTRINSIC
coiled coil region	1306	1335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176630

SMART Domains

Protein: ENSMUSP00000135476
Gene: ENSMUSG00000024613

Domain	Start	End	E-Value	Type
LisH	6	38	5.09e-4	SMART
Pfam:Treacle	108	323	2.5e-8	PFAM
Pfam:Treacle	321	793	5.9e-204	PFAM
low complexity region	819	834	N/A	INTRINSIC
low complexity region	843	857	N/A	INTRINSIC
low complexity region	880	891	N/A	INTRINSIC
low complexity region	933	946	N/A	INTRINSIC
low complexity region	989	1003	N/A	INTRINSIC
low complexity region	1024	1038	N/A	INTRINSIC
low complexity region	1113	1136	N/A	INTRINSIC
low complexity region	1224	1249	N/A	INTRINSIC
coiled coil region	1270	1299	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired transport of MHC class II molecules, poor antigen presentation, and deficiency of CD4+ T cell development and positive selection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 219 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	G	A	1: 130,665,425 (GRCm39)		probably null	Het
Abca7	T	C	10: 79,835,599 (GRCm39)	L289P	probably damaging	Het
Ache	A	G	5: 137,288,837 (GRCm39)	N181S	possibly damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Adgrv1	T	A	13: 81,654,265 (GRCm39)	H2922L	probably benign	Het
Aspm	A	G	1: 139,401,312 (GRCm39)	I1111V	probably benign	Het
Baz1a	G	A	12: 54,955,805 (GRCm39)	R1095C	probably damaging	Het
Bcan	T	G	3: 87,900,932 (GRCm39)	I434L	probably benign	Het
Brca1	A	C	11: 101,422,844 (GRCm39)		probably null	Het
C4bp	C	G	1: 130,570,725 (GRCm39)	V284L	probably benign	Het
Cacna1s	T	C	1: 136,046,454 (GRCm39)	F1761S	probably benign	Het
Camsap2	C	T	1: 136,209,053 (GRCm39)	R802Q	probably benign	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Ccdc93	C	T	1: 121,383,855 (GRCm39)	P192L	probably benign	Het
Ccdc93	T	C	1: 121,389,668 (GRCm39)	V237A	probably benign	Het
Cd55	C	A	1: 130,387,370 (GRCm39)	A143S	probably benign	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cd55b	T	A	1: 130,316,392 (GRCm39)	R273*	probably null	Het
Cd82	C	A	2: 93,267,774 (GRCm39)	V8F	probably damaging	Het
Cdh19	C	A	1: 110,821,114 (GRCm39)	E541D	probably damaging	Het
Cdh20	C	G	1: 109,993,465 (GRCm39)	L307V	possibly damaging	Het
Cdh4	A	G	2: 179,439,273 (GRCm39)	D140G	probably benign	Het
Cfh	C	T	1: 140,075,435 (GRCm39)	V268I	possibly damaging	Het
Cfh	T	C	1: 140,064,526 (GRCm39)	K374R	probably benign	Het
Cfhr2	A	G	1: 139,741,180 (GRCm39)	M265T	probably benign	Het
Cfhr2	A	C	1: 139,741,197 (GRCm39)	N259K	probably benign	Het
Chd1l	A	G	3: 97,495,615 (GRCm39)	L361S	probably damaging	Het
Chi3l1	C	T	1: 134,116,267 (GRCm39)	A250V	probably damaging	Het
Cntnap5a	T	C	1: 116,382,831 (GRCm39)	L1033S	probably benign	Het
Cntnap5a	C	T	1: 116,382,873 (GRCm39)	T1047I	probably benign	Het
Cntnap5a	C	A	1: 116,382,734 (GRCm39)	L1001I	probably benign	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,165,360 (GRCm39)	H921Q	probably benign	Het
Crb1	G	A	1: 139,168,876 (GRCm39)	P881S	probably damaging	Het
Crb1	C	T	1: 139,170,733 (GRCm39)	G825R	probably damaging	Het
Crb1	C	T	1: 139,171,155 (GRCm39)	R684H	probably benign	Het
Crb1	T	C	1: 139,162,517 (GRCm39)	M1214V	probably benign	Het
Crb1	T	C	1: 139,165,269 (GRCm39)	S952G	probably damaging	Het
Cxcr4	C	T	1: 128,517,014 (GRCm39)	V216I	probably benign	Het
Cyb5r1	C	T	1: 134,335,405 (GRCm39)	R147W	probably damaging	Het
Ddx59	T	C	1: 136,344,791 (GRCm39)	V154A	probably benign	Het
Dlc1	T	A	8: 37,404,739 (GRCm39)	N350I	probably benign	Het
Dpp9	A	G	17: 56,495,362 (GRCm39)	I801T	probably damaging	Het
Dsel	G	C	1: 111,787,724 (GRCm39)	T937S	probably benign	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Dsg3	A	G	18: 20,672,789 (GRCm39)	D820G	probably damaging	Het
Dstyk	C	T	1: 132,384,722 (GRCm39)	L739F	probably damaging	Het
Eme2	T	C	17: 25,112,367 (GRCm39)	H186R	probably benign	Het
Etnk2	G	T	1: 133,293,503 (GRCm39)	G149W	probably damaging	Het
Etnk2	C	A	1: 133,293,325 (GRCm39)	D89E	probably benign	Het
Etnk2	G	T	1: 133,304,784 (GRCm39)	A336S	probably benign	Het
Etnk2	T	A	1: 133,304,653 (GRCm39)	V292E	probably benign	Het
Etnk2	G	A	1: 133,293,555 (GRCm39)	R166Q	probably benign	Het
Etnk2	C	T	1: 133,293,554 (GRCm39)	R166*	probably null	Het
Fam72a	C	T	1: 131,466,633 (GRCm39)	T139M	probably benign	Het
Fam72a	T	C	1: 131,458,406 (GRCm39)	I56T	probably benign	Het
Fcamr	A	G	1: 130,739,317 (GRCm39)	I206V	probably benign	Het
Fcamr	A	C	1: 130,732,364 (GRCm39)	N117T	probably benign	Het
Fcamr	A	G	1: 130,742,334 (GRCm39)	N574D	probably benign	Het
Fcamr	C	T	1: 130,740,553 (GRCm39)	P324L	probably benign	Het
Fcamr	A	G	1: 130,740,546 (GRCm39)	M322V	probably benign	Het
Fcamr	T	C	1: 130,740,475 (GRCm39)	V298A	probably benign	Het
Fcamr	A	G	1: 130,740,429 (GRCm39)	I283V	probably benign	Het
Fcamr	G	A	1: 130,740,366 (GRCm39)	G262S	probably benign	Het
Fcmr	T	C	1: 130,806,006 (GRCm39)	S321P	probably benign	Het
Fcmr	A	G	1: 130,803,711 (GRCm39)	T172A	probably benign	Het
G6pc2	A	T	2: 69,051,186 (GRCm39)	H93L	possibly damaging	Het
Gdf3	T	C	6: 122,583,366 (GRCm39)	T334A	possibly damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gli2	G	T	1: 118,929,774 (GRCm39)	H44Q	probably benign	Het
Gli2	C	T	1: 118,795,817 (GRCm39)	A113T	possibly damaging	Het
Glrx2	C	T	1: 143,615,478 (GRCm39)	A27V	possibly damaging	Het
Gm10110	A	G	14: 90,134,825 (GRCm39)		noncoding transcript	Het
Gm10563	C	T	4: 155,720,337 (GRCm39)		probably benign	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm9637	T	C	14: 19,402,408 (GRCm38)		noncoding transcript	Het
Gpbp1	A	T	13: 111,577,308 (GRCm39)	V194D	probably benign	Het
Gpr25	G	A	1: 136,188,448 (GRCm39)	P55L	probably benign	Het
Gpr39	G	A	1: 125,800,286 (GRCm39)	V346M	possibly damaging	Het
Gpr84	T	A	15: 103,217,754 (GRCm39)	I108F	probably damaging	Het
Grid2	G	T	6: 64,510,638 (GRCm39)	C756F	probably damaging	Het
Grm7	G	C	6: 111,335,256 (GRCm39)	D556H	probably damaging	Het
Has2	T	C	15: 56,545,006 (GRCm39)	R199G	probably benign	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igf2bp2	A	T	16: 21,902,697 (GRCm39)	Y59*	probably null	Het
Igfn1	T	C	1: 135,926,421 (GRCm39)	I10V	unknown	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Igfn1	G	A	1: 135,910,213 (GRCm39)	R124W	probably benign	Het
Igfn1	C	T	1: 135,907,653 (GRCm39)	A231T	probably benign	Het
Igfn1	C	T	1: 135,899,865 (GRCm39)	R482Q	probably benign	Het
Igfn1	T	C	1: 135,898,149 (GRCm39)	S806G	probably benign	Het
Igfn1	G	A	1: 135,895,937 (GRCm39)	A1543V	probably benign	Het
Igfn1	G	A	1: 135,887,666 (GRCm39)	P2466L	probably damaging	Het
Ikbke	T	C	1: 131,197,560 (GRCm39)	S447G	probably benign	Het
Ikbke	C	A	1: 131,193,674 (GRCm39)	A459S	probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Irx5	T	A	8: 93,086,272 (GRCm39)	N118K	probably damaging	Het
Itk	T	C	11: 46,227,309 (GRCm39)	E438G	probably damaging	Het
Kcnt2	G	A	1: 140,282,285 (GRCm39)	S90N	probably benign	Het
Kdm5b	T	A	1: 134,532,205 (GRCm39)	L461*	probably null	Het
Kif14	A	G	1: 136,396,017 (GRCm39)	N108D	probably benign	Het
Kif14	T	C	1: 136,453,521 (GRCm39)	V1433A	probably benign	Het
Kif14	T	C	1: 136,443,699 (GRCm39)	F1291L	probably benign	Het
Kif14	C	T	1: 136,431,169 (GRCm39)	L1189F	probably benign	Het
Kif14	A	G	1: 136,418,070 (GRCm39)	S868G	probably benign	Het
Kif14	G	A	1: 136,406,103 (GRCm39)	A556T	probably benign	Het
Kif14	A	G	1: 136,396,713 (GRCm39)	K340E	probably damaging	Het
Lad1	C	T	1: 135,755,119 (GRCm39)	P132S	possibly damaging	Het
Lad1	C	T	1: 135,755,761 (GRCm39)	R346C	probably damaging	Het
Lax1	T	C	1: 133,608,307 (GRCm39)	N145D	probably benign	Het
Lax1	T	C	1: 133,607,716 (GRCm39)	R342G	probably benign	Het
Lax1	G	A	1: 133,611,372 (GRCm39)	P67S	probably damaging	Het
Lgr6	C	T	1: 134,914,826 (GRCm39)	V641I	probably benign	Het
Lgr6	C	T	1: 134,931,214 (GRCm39)	S3N	probably benign	Het
Lgr6	G	T	1: 134,918,373 (GRCm39)	H263N	probably benign	Het
Lgr6	A	T	1: 134,915,747 (GRCm39)	S334T	probably benign	Het
Lmod1	C	T	1: 135,291,811 (GRCm39)	T222I	probably benign	Het
Lrrtm1	T	C	6: 77,221,680 (GRCm39)	V379A	probably benign	Het
Mbd3l1	T	G	9: 18,396,435 (GRCm39)	*187E	probably null	Het
Micu1	T	A	10: 59,699,082 (GRCm39)	M453K	possibly damaging	Het
Mlh1	A	T	9: 111,058,997 (GRCm39)	C676S	probably damaging	Het
Mroh3	G	C	1: 136,119,882 (GRCm39)	Q440E	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Mybph	C	T	1: 134,125,218 (GRCm39)	R249C	probably benign	Het
Myh7b	G	A	2: 155,472,778 (GRCm39)	E1391K	probably damaging	Het
Myorg	T	A	4: 41,498,553 (GRCm39)	Y359F	possibly damaging	Het
Myrfl	A	C	10: 116,634,498 (GRCm39)	M632R	probably damaging	Het
Naif1	T	C	2: 32,344,902 (GRCm39)	V202A	possibly damaging	Het
Nav1	A	T	1: 135,512,465 (GRCm39)	D198E	possibly damaging	Het
Ncor1	T	C	11: 62,275,610 (GRCm39)	E525G	possibly damaging	Het
Nlrx1	T	C	9: 44,174,937 (GRCm39)	M280V	possibly damaging	Het
Nr5a2	C	A	1: 136,879,863 (GRCm39)	R35L	probably benign	Het
Nrg1	T	A	8: 32,312,351 (GRCm39)	H382L	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Optc	C	G	1: 133,832,908 (GRCm39)	S64T	probably benign	Het
Or10w1	G	A	19: 13,631,868 (GRCm39)	R25H	probably benign	Het
Or12e13	G	T	2: 87,664,009 (GRCm39)	V209F	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4g17	A	G	2: 111,209,918 (GRCm39)	D191G	probably damaging	Het
Or52e19	C	T	7: 102,959,428 (GRCm39)	R167C	probably damaging	Het
Or52n3	C	T	7: 104,530,447 (GRCm39)	H178Y	probably damaging	Het
Or52r1b	C	A	7: 102,691,249 (GRCm39)	H183N	probably damaging	Het
Or5aq1b	A	T	2: 86,902,265 (GRCm39)	I71N	probably damaging	Het
Or6aa1	T	C	7: 86,044,353 (GRCm39)	M118V	probably damaging	Het
Or8d2b	A	G	9: 38,789,081 (GRCm39)	N203S	probably damaging	Het
Pah	A	G	10: 87,403,330 (GRCm39)	Q235R	possibly damaging	Het
Pcdhb9	A	G	18: 37,536,136 (GRCm39)	E710G	probably benign	Het
Pcnt	T	A	10: 76,190,971 (GRCm39)		probably null	Het
Pdzk1	A	T	3: 96,758,889 (GRCm39)	N98I	probably benign	Het
Pigr	C	T	1: 130,772,259 (GRCm39)	A159V	possibly damaging	Het
Pik3c2b	C	T	1: 132,994,365 (GRCm39)	P110S	probably benign	Het
Plekha6	C	G	1: 133,215,584 (GRCm39)	T792S	probably benign	Het
Ppfia4	G	A	1: 134,227,059 (GRCm39)	P1159S	probably benign	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Prkdc	T	A	16: 15,455,825 (GRCm39)	C25S	probably benign	Het
Ptpn7	A	G	1: 135,062,213 (GRCm39)	Q53R	probably benign	Het
Ptprc	T	G	1: 138,027,414 (GRCm39)	N478T	probably benign	Het
Ptprc	T	C	1: 138,039,992 (GRCm39)	K212E	possibly damaging	Het
Ptprc	A	G	1: 138,035,575 (GRCm39)	V400A	probably benign	Het
Ptprc	C	A	1: 138,035,562 (GRCm39)	E402D	probably benign	Het
Ptprc	A	G	1: 138,035,561 (GRCm39)	S405P	probably benign	Het
Rab29	A	G	1: 131,799,848 (GRCm39)	Q141R	probably benign	Het
Rasal2	T	C	1: 157,126,714 (GRCm39)	E90G	possibly damaging	Het
Ren1	T	A	1: 133,281,944 (GRCm39)	W22R	probably damaging	Het
Ren1	C	G	1: 133,287,745 (GRCm39)	L360V	probably benign	Het
Ren1	A	T	1: 133,286,817 (GRCm39)	E315D	probably benign	Het
Ren1	C	A	1: 133,286,720 (GRCm39)		probably null	Het
Ren1	C	T	1: 133,281,975 (GRCm39)	T32I	probably benign	Het
Rictor	T	C	15: 6,786,054 (GRCm39)	I190T	probably benign	Het
Rnpep	C	T	1: 135,190,834 (GRCm39)	A571T	possibly damaging	Het
Ro60	C	T	1: 143,635,752 (GRCm39)	V465I	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Sbf2	T	C	7: 109,911,965 (GRCm39)	T1694A	probably benign	Het
Sbno2	C	T	10: 79,902,440 (GRCm39)	E486K	probably damaging	Het
Sctr	T	C	1: 119,959,386 (GRCm39)	F110L	probably benign	Het
Sctr	G	A	1: 119,990,987 (GRCm39)	S440N	possibly damaging	Het
Sctr	G	T	1: 119,990,976 (GRCm39)	E453D	probably benign	Het
Semp2l2b	A	T	10: 21,943,411 (GRCm39)	C190S	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Serpinb10	C	T	1: 107,466,203 (GRCm39)	S63F	probably damaging	Het
Serpinb2	C	A	1: 107,451,564 (GRCm39)	A239E	probably benign	Het
Serpinb2	C	T	1: 107,451,620 (GRCm39)	H258Y	probably benign	Het
Serpinb2	C	T	1: 107,451,624 (GRCm39)	T259I	probably benign	Het
Serpinb2	A	C	1: 107,452,273 (GRCm39)	S284R	probably benign	Het
Serpinb2	G	A	1: 107,443,365 (GRCm39)	A55T	probably damaging	Het
Serpinb8	A	C	1: 107,534,734 (GRCm39)	L268F	probably benign	Het
Serpinb8	A	G	1: 107,525,257 (GRCm39)	S20G	probably benign	Het
Serpinb8	G	A	1: 107,526,684 (GRCm39)	A75T	probably benign	Het
Skint6	T	C	4: 113,093,678 (GRCm39)	N155S	probably damaging	Het
Slc26a9	C	T	1: 131,691,608 (GRCm39)	A617V	probably benign	Het
Slc26a9	C	A	1: 131,693,750 (GRCm39)	R747S	probably benign	Het
Slc30a5	T	C	13: 100,949,970 (GRCm39)	T371A	probably damaging	Het
Slit1	A	T	19: 41,591,774 (GRCm39)	Y1283N	probably damaging	Het
Steap3	T	C	1: 120,155,480 (GRCm39)	N493S	probably benign	Het
Steap3	G	A	1: 120,162,108 (GRCm39)	A350V	probably benign	Het
Stx19	A	T	16: 62,642,343 (GRCm39)	Q53L	probably damaging	Het
Tbc1d4	T	C	14: 101,744,574 (GRCm39)	S351G	possibly damaging	Het
Tbx15	T	A	3: 99,259,260 (GRCm39)	L377*	probably null	Het
Tecta	A	T	9: 42,286,605 (GRCm39)	Y684N	probably benign	Het
Thsd7b	C	T	1: 129,556,628 (GRCm39)	T328I	probably damaging	Het
Thsd7b	A	C	1: 130,044,368 (GRCm39)	Q1116P	probably benign	Het
Thsd7b	T	A	1: 130,030,813 (GRCm39)	H1049Q	possibly damaging	Het
Thsd7b	G	C	1: 129,605,920 (GRCm39)	A554P	probably benign	Het
Thsd7b	T	A	1: 129,595,674 (GRCm39)	F498Y	probably benign	Het
Tnnt2	C	T	1: 135,773,244 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ube2t	C	T	1: 134,899,905 (GRCm39)	A149V	probably benign	Het
Wnt5a	T	C	14: 28,244,848 (GRCm39)	V345A	probably damaging	Het
Xylt1	A	T	7: 117,236,988 (GRCm39)	H579L	probably benign	Het
Zbtb4	A	T	11: 69,669,743 (GRCm39)	Q822L	probably benign	Het
Zc3h11a	G	A	1: 133,549,892 (GRCm39)	P695S	probably benign	Het
Zc3h11a	C	T	1: 133,552,359 (GRCm39)	V583I	probably benign	Het
Zc3h12c	A	T	9: 52,027,081 (GRCm39)	S760R	probably benign	Het
Zp3r	C	A	1: 130,547,151 (GRCm39)	E8D	possibly damaging	Het
Zp3r	A	G	1: 130,524,551 (GRCm39)	L164P	probably benign	Het

Other mutations in Cd74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Cd74	APN	18	60,944,398 (GRCm39)	missense	probably benign	0.02
IGL01475:Cd74	APN	18	60,943,393 (GRCm39)	unclassified	probably benign
IGL01867:Cd74	APN	18	60,941,352 (GRCm39)	missense	probably benign	0.03
IGL03207:Cd74	APN	18	60,944,996 (GRCm39)	unclassified	probably benign
R0010:Cd74	UTSW	18	60,936,968 (GRCm39)	start gained	probably benign
R0010:Cd74	UTSW	18	60,942,143 (GRCm39)	missense	probably benign	0.06
R0010:Cd74	UTSW	18	60,942,143 (GRCm39)	missense	probably benign	0.06
R0416:Cd74	UTSW	18	60,944,486 (GRCm39)	missense	possibly damaging	0.90
R0652:Cd74	UTSW	18	60,944,957 (GRCm39)	missense	probably damaging	1.00
R1433:Cd74	UTSW	18	60,937,064 (GRCm39)	missense	probably benign	0.04
R1490:Cd74	UTSW	18	60,944,438 (GRCm39)	missense	probably damaging	1.00
R1869:Cd74	UTSW	18	60,943,484 (GRCm39)	missense	probably benign	0.18
R4957:Cd74	UTSW	18	60,942,109 (GRCm39)	missense	probably benign	0.01
R5433:Cd74	UTSW	18	60,940,993 (GRCm39)	missense	probably benign	0.21
R5513:Cd74	UTSW	18	60,944,377 (GRCm39)	missense	probably damaging	1.00
R6073:Cd74	UTSW	18	60,944,558 (GRCm39)	critical splice donor site	probably null
R6381:Cd74	UTSW	18	60,944,435 (GRCm39)	missense	probably damaging	1.00
R7394:Cd74	UTSW	18	60,936,965 (GRCm39)	start gained	probably benign
R8944:Cd74	UTSW	18	60,943,127 (GRCm39)	missense	probably damaging	1.00
R9252:Cd74	UTSW	18	60,941,364 (GRCm39)	missense	possibly damaging	0.50
R9256:Cd74	UTSW	18	60,944,366 (GRCm39)	missense	probably benign	0.03
X0011:Cd74	UTSW	18	60,944,559 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCCCACAAGTGGAAGGCTAGAG -3'
(R):5'- GATTATGTGACACGGTGTCCCCTG -3'

Sequencing Primer
(F):5'- gcagcccccatttctactttatc -3'
(R):5'- ACGGTGTCCCCTGCTTAC -3'

Posted On

2014-05-23