Mutagenetix > Incidental Mutation

Incidental Mutation 'R8944:Cd74'

681213

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

068783-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8944 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60936921-60945724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60943127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 155 (M155T)

Ref Sequence

ENSEMBL: ENSMUSP00000126688 (fasta)

Gene Model

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

AlphaFold

P04441

Predicted Effect

probably damaging
Transcript: ENSMUST00000050487
AA Change: M155T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057836
Gene: ENSMUSG00000024610
AA Change: M155T

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 damaging
Transcript: ENSMUST00000097563
AA Change: M155T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095171
Gene: ENSMUSG00000024610
AA Change: M155T

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 damaging
Transcript: ENSMUST00000167610
AA Change: M155T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126688
Gene: ENSMUSG00000024610
AA Change: M155T

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,049,851 (GRCm39)		probably benign	Het
A830018L16Rik	A	T	1: 11,484,706 (GRCm39)		probably benign	Het
Acox1	C	T	11: 116,066,040 (GRCm39)	R454H	probably damaging	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
AI182371	A	C	2: 34,990,622 (GRCm39)	L25R	probably damaging	Het
Ankrd12	A	C	17: 66,277,195 (GRCm39)	Y2026*	probably null	Het
Atad5	C	T	11: 79,986,524 (GRCm39)	T537M	possibly damaging	Het
Atosa	A	G	9: 74,911,562 (GRCm39)	Y11C	probably damaging	Het
Avil	G	T	10: 126,846,455 (GRCm39)	G420V	probably damaging	Het
Bche	A	T	3: 73,608,008 (GRCm39)	F473I	probably damaging	Het
Borcs5	T	C	6: 134,621,437 (GRCm39)		probably null	Het
C4b	T	C	17: 34,961,913 (GRCm39)	Q111R	probably benign	Het
Carmil2	T	A	8: 106,417,437 (GRCm39)	I565N	probably damaging	Het
Chrnd	G	T	1: 87,119,997 (GRCm39)	R105L	probably damaging	Het
Clpp	G	T	17: 57,300,553 (GRCm39)	E217*	probably null	Het
Cpq	T	A	15: 33,594,269 (GRCm39)	Y427N	probably damaging	Het
Crxos	G	A	7: 15,636,900 (GRCm39)	E54K	possibly damaging	Het
Dcaf13	A	G	15: 39,001,612 (GRCm39)	R307G	possibly damaging	Het
Ddx55	A	G	5: 124,706,788 (GRCm39)	D595G	probably damaging	Het
Dld	T	A	12: 31,390,868 (GRCm39)	I193F	possibly damaging	Het
Dnah11	T	G	12: 118,091,381 (GRCm39)	E917A	possibly damaging	Het
Dnai2	T	A	11: 114,641,302 (GRCm39)	Y376N	possibly damaging	Het
Dock7	A	G	4: 98,829,243 (GRCm39)	Y2078H	probably damaging	Het
Dusp4	A	T	8: 35,274,941 (GRCm39)	N20I	probably benign	Het
Dzank1	A	G	2: 144,333,729 (GRCm39)	L367P	probably benign	Het
Eea1	T	A	10: 95,832,822 (GRCm39)	D222E	probably damaging	Het
Erich3	G	C	3: 154,462,692 (GRCm39)	R742S		Het
Erich6	C	T	3: 58,537,275 (GRCm39)	M246I	probably benign	Het
Galnt16	T	G	12: 80,623,314 (GRCm39)	I158S	probably damaging	Het
Gm28363	A	G	1: 117,655,080 (GRCm39)	T100A	possibly damaging	Het
Gm8257	A	T	14: 44,893,849 (GRCm39)	Y36N	probably damaging	Het
Gmpr2	T	C	14: 55,913,149 (GRCm39)	V142A	possibly damaging	Het
Grid2ip	T	C	5: 143,366,260 (GRCm39)		probably null	Het
Hamp2	A	G	7: 30,622,001 (GRCm39)	F63L	possibly damaging	Het
Hmga2	T	C	10: 120,309,159 (GRCm39)	K66E	probably damaging	Het
Hspa1a	T	C	17: 35,190,019 (GRCm39)	T295A	probably benign	Het
Ift74	G	A	4: 94,510,128 (GRCm39)	G53D	probably damaging	Het
Ighv6-7	T	C	12: 114,419,703 (GRCm39)	M1V	probably null	Het
Ints4	T	A	7: 97,183,593 (GRCm39)	D769E	probably benign	Het
Kif7	G	A	7: 79,360,005 (GRCm39)	R411C	probably damaging	Het
Klhl30	T	A	1: 91,287,174 (GRCm39)	Y487N	probably damaging	Het
Kras	T	C	6: 145,170,853 (GRCm39)	E174G	probably benign	Het
Krt84	T	C	15: 101,437,183 (GRCm39)	I327V	probably benign	Het
Lamb3	T	A	1: 193,014,525 (GRCm39)	C561*	probably null	Het
Lmbrd1	A	G	1: 24,767,407 (GRCm39)		probably benign	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lrp2	C	T	2: 69,341,348 (GRCm39)	G944D	probably damaging	Het
Mta3	G	A	17: 84,083,146 (GRCm39)	E280K	probably damaging	Het
Muc5b	A	T	7: 141,421,115 (GRCm39)	I4236F		Het
Myh9	T	C	15: 77,655,432 (GRCm39)	T1175A	probably benign	Het
Myt1l	T	A	12: 29,861,564 (GRCm39)	D115E	unknown	Het
Naa25	A	G	5: 121,552,573 (GRCm39)	N167D	probably benign	Het
Ncam1	G	A	9: 49,431,493 (GRCm39)	P648L	probably damaging	Het
Or2t26	T	C	11: 49,039,266 (GRCm39)	Y61H	probably damaging	Het
Or2t44	A	T	11: 58,677,519 (GRCm39)	D153V	probably damaging	Het
P3h3	G	T	6: 124,832,196 (GRCm39)	A230E	possibly damaging	Het
Pacs2	A	G	12: 113,020,476 (GRCm39)	E253G	probably damaging	Het
Pbld1	A	T	10: 62,901,648 (GRCm39)	D57V	probably benign	Het
Pcsk5	T	C	19: 17,452,275 (GRCm39)	T1077A	probably damaging	Het
Pou4f2	T	A	8: 79,161,932 (GRCm39)	M224L		Het
Ppcdc	C	T	9: 57,342,265 (GRCm39)	R19H	probably benign	Het
Ppp1r10	T	A	17: 36,241,018 (GRCm39)	M640K	probably benign	Het
Prdx6	A	T	1: 161,069,432 (GRCm39)		probably benign	Het
Rab40b	A	G	11: 121,250,384 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,329 (GRCm39)	M237K	probably benign	Het
Rbbp8nl	G	T	2: 179,919,769 (GRCm39)	Y604*	probably null	Het
Reep2	G	T	18: 34,975,929 (GRCm39)	W42L	possibly damaging	Het
Serpinb6e	A	T	13: 34,017,261 (GRCm39)	M253K	probably damaging	Het
Shank2	A	G	7: 143,623,927 (GRCm39)	Q304R	probably damaging	Het
Slk	T	C	19: 47,600,057 (GRCm39)	M120T	probably damaging	Het
Spata31e5	T	C	1: 28,816,155 (GRCm39)	I626V	probably benign	Het
Sphkap	T	A	1: 83,256,927 (GRCm39)	H274L	probably benign	Het
Stc1	T	G	14: 69,269,884 (GRCm39)	F155V	possibly damaging	Het
Tbc1d12	A	G	19: 38,899,510 (GRCm39)	T477A	probably damaging	Het
Tmem19	T	A	10: 115,183,671 (GRCm39)	I54F	possibly damaging	Het
Tmem62	G	A	2: 120,817,316 (GRCm39)		probably null	Het
Ttc6	A	T	12: 57,689,826 (GRCm39)	R505S		Het
Ttn	G	T	2: 76,623,184 (GRCm39)	R15418S	probably damaging	Het
Ugt2a3	C	A	5: 87,473,417 (GRCm39)	C500F	possibly damaging	Het
Ugt2b35	T	C	5: 87,149,310 (GRCm39)	F187S	probably benign	Het
Ung	T	A	5: 114,269,456 (GRCm39)	I56N	probably damaging	Het
Vmn1r17	G	T	6: 57,338,142 (GRCm39)	F25L	probably benign	Het
Vmn1r29	C	A	6: 58,284,274 (GRCm39)		probably benign	Het
Vps26c	T	A	16: 94,302,481 (GRCm39)	I242F	probably benign	Het
Wdhd1	T	C	14: 47,504,470 (GRCm39)	D368G	probably benign	Het
Wdr3	A	T	3: 100,057,259 (GRCm39)	I448N	probably damaging	Het
Wdr47	T	A	3: 108,550,480 (GRCm39)	M835K	possibly damaging	Het
Wt1	G	A	2: 104,957,584 (GRCm39)	G10D	possibly damaging	Het
Zdhhc19	G	A	16: 32,316,500 (GRCm39)	G85D	probably damaging	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
R1762:Cd74	UTSW	18	60,944,390 (GRCm39)	missense	probably benign	0.00
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
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'- GTGGCTAATGTCCATTCCTCAG -3'
(R):5'- TGGACTCTGCCTTGACTACAAAC -3'

Sequencing Primer
(F):5'- TGTCCATTCCTCAGAACGAAGG -3'
(R):5'- AAACTTGGAGGGGTCCAGCTTC -3'

Posted On

2021-08-31