Mutagenetix > Incidental Mutation

Incidental Mutation 'R0510:H2-Eb2'

47855

Institutional Source

Beutler Lab

Gene Symbol

H2-Eb2

Ensembl Gene

ENSMUSG00000067341

Gene Name

histocompatibility 2, class II antigen E beta2

Synonyms

A130038H09Rik, Ia5, H-2Eb2, Ia-5

MMRRC Submission

038704-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R0510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34325665-34340229 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 34334244 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 135 (Q135*)

Ref Sequence

ENSEMBL: ENSMUSP00000056814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050325]

AlphaFold

Q3UUV9

Predicted Effect

probably null
Transcript: ENSMUST00000050325
AA Change: Q135*

SMART Domains

Protein: ENSMUSP00000056814
Gene: ENSMUSG00000067341
AA Change: Q135*

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
MHC_II_beta	42	115	8.29e-35	SMART
IGc1	140	211	1.24e-26	SMART
transmembrane domain	227	249	N/A	INTRINSIC

Meta Mutation Damage Score

0.9640

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (102/103)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,977,616 (GRCm38)	I67T	probably damaging	Het
Acoxl	G	A	2: 127,880,503 (GRCm38)		probably null	Het
Adam10	T	A	9: 70,748,248 (GRCm38)	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232 (GRCm38)	R5627*	probably null	Het
Alms1	A	T	6: 85,620,369 (GRCm38)	R1195*	probably null	Het
Ap2m1	T	A	16: 20,542,240 (GRCm38)	I334N	possibly damaging	Het
Brd8dc	A	T	18: 34,596,151 (GRCm38)	D42E	probably damaging	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Ccdc110	T	A	8: 45,935,157 (GRCm38)	N50K	probably benign	Het
Ccdc168	T	A	1: 44,061,097 (GRCm38)	K280N	possibly damaging	Het
Cdhr1	T	C	14: 37,080,676 (GRCm38)	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,691,596 (GRCm38)		probably null	Het
Celsr3	G	A	9: 108,827,005 (GRCm38)	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351 (GRCm38)	Y676N	probably damaging	Het
Col11a1	A	T	3: 114,105,456 (GRCm38)		probably benign	Het
Cpe	T	A	8: 64,611,467 (GRCm38)	I233F	probably damaging	Het
Cpsf1	A	T	15: 76,603,657 (GRCm38)		probably benign	Het
Cpsf2	T	C	12: 101,988,786 (GRCm38)	V272A	probably damaging	Het
Creld2	A	T	15: 88,819,956 (GRCm38)	N50I	probably damaging	Het
Cyb5r1	T	C	1: 134,409,692 (GRCm38)		probably benign	Het
Dcaf11	T	C	14: 55,569,080 (GRCm38)	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972 (GRCm38)		probably null	Het
Dgat1	T	C	15: 76,511,567 (GRCm38)	Y72C	possibly damaging	Het
Efr3b	G	T	12: 3,982,058 (GRCm38)	D183E	probably benign	Het
Enpp3	A	T	10: 24,776,781 (GRCm38)	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763 (GRCm38)	T22A	probably benign	Het
Etfbkmt	C	T	6: 149,150,584 (GRCm38)	R96W	probably benign	Het
Fam83b	G	T	9: 76,492,826 (GRCm38)	L332I	possibly damaging	Het
Fat3	C	A	9: 15,999,685 (GRCm38)	E1674*	probably null	Het
Fbn1	A	G	2: 125,342,925 (GRCm38)		probably benign	Het
Gm5134	C	A	10: 75,974,245 (GRCm38)	T120N	probably benign	Het
Gmip	C	T	8: 69,815,609 (GRCm38)		probably benign	Het
Gpbp1	G	T	13: 111,440,745 (GRCm38)	Q204K	possibly damaging	Het
Gpr108	T	C	17: 57,235,358 (GRCm38)	D549G	possibly damaging	Het
Gsdme	C	A	6: 50,246,127 (GRCm38)		probably benign	Het
Gucy2e	T	C	11: 69,235,576 (GRCm38)	D326G	probably benign	Het
Hectd4	G	A	5: 121,305,673 (GRCm38)	E1319K	possibly damaging	Het
Hectd4	T	A	5: 121,281,896 (GRCm38)	Y635N	possibly damaging	Het
Hs3st2	T	C	7: 121,500,569 (GRCm38)	S213P	probably damaging	Het
Ikbkb	A	T	8: 22,671,635 (GRCm38)	C412*	probably null	Het
Itpr2	T	C	6: 146,417,979 (GRCm38)	T188A	possibly damaging	Het
Kcnh1	T	A	1: 192,418,941 (GRCm38)		probably benign	Het
Kctd21	T	C	7: 97,347,541 (GRCm38)	F74L	probably damaging	Het
Krt23	T	A	11: 99,486,782 (GRCm38)	I133L	probably damaging	Het
Krt74	T	C	15: 101,763,316 (GRCm38)		noncoding transcript	Het
Krt81	C	A	15: 101,463,627 (GRCm38)	R24L	possibly damaging	Het
Lmtk3	T	A	7: 45,794,112 (GRCm38)	L740M	possibly damaging	Het
Lrrc10	T	A	10: 117,045,790 (GRCm38)	L123Q	probably damaging	Het
Map1a	A	T	2: 121,305,774 (GRCm38)	H2357L	probably benign	Het
Mbl1	A	G	14: 41,158,749 (GRCm38)	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337 (GRCm38)	D233G	probably damaging	Het
Msto1	A	G	3: 88,911,541 (GRCm38)	L269P	probably benign	Het
Mtss1	A	T	15: 58,956,538 (GRCm38)	D175E	probably benign	Het
Myef2	A	T	2: 125,109,034 (GRCm38)		probably benign	Het
Neb	A	T	2: 52,290,743 (GRCm38)		probably benign	Het
Or14a259	T	C	7: 86,363,827 (GRCm38)	N170S	probably benign	Het
Or4a39	A	T	2: 89,406,791 (GRCm38)	M96K	probably damaging	Het
Or5w15	A	G	2: 87,737,481 (GRCm38)	V281A	probably damaging	Het
Parp2	T	A	14: 50,819,673 (GRCm38)	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796 (GRCm38)	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976 (GRCm38)	N296Y	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053 (GRCm38)	I884N	probably damaging	Het
Pim1	T	C	17: 29,493,909 (GRCm38)		probably benign	Het
Pou6f2	A	G	13: 18,139,723 (GRCm38)		probably benign	Het
Prelid3b	A	G	2: 174,465,950 (GRCm38)		probably benign	Het
Proc	G	A	18: 32,125,118 (GRCm38)	T258I	probably benign	Het
Rab3gap2	T	C	1: 185,260,508 (GRCm38)		probably benign	Het
Rb1cc1	A	C	1: 6,249,171 (GRCm38)	K938T	probably benign	Het
Rem2	T	C	14: 54,476,297 (GRCm38)		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rin2	A	G	2: 145,861,033 (GRCm38)	K550E	probably benign	Het
Rps6ka4	G	T	19: 6,840,498 (GRCm38)	T17N	probably benign	Het
Rtn4	T	A	11: 29,733,849 (GRCm38)		probably benign	Het
Ruvbl2	C	T	7: 45,431,306 (GRCm38)		probably benign	Het
Scaper	A	G	9: 55,758,062 (GRCm38)		probably benign	Het
Sdc2	T	C	15: 33,017,089 (GRCm38)		probably benign	Het
Semp2l1	T	A	1: 32,545,875 (GRCm38)	N318I	possibly damaging	Het
Slc35e1	T	C	8: 72,492,571 (GRCm38)		probably benign	Het
Slco2b1	T	A	7: 99,661,536 (GRCm38)	M603L	probably benign	Het
Smpdl3b	A	G	4: 132,745,138 (GRCm38)	V108A	probably damaging	Het
Sptbn4	C	T	7: 27,361,566 (GRCm38)		probably null	Het
Srrm1	G	A	4: 135,338,543 (GRCm38)		probably benign	Het
Ssh1	A	T	5: 113,946,705 (GRCm38)	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548 (GRCm38)		probably null	Het
Sv2b	T	G	7: 75,136,392 (GRCm38)	M427L	probably benign	Het
Syne1	A	G	10: 5,367,600 (GRCm38)	L498P	probably damaging	Het
Syne2	T	C	12: 75,854,149 (GRCm38)		probably null	Het
Taf6l	G	T	19: 8,778,521 (GRCm38)	H254Q	probably benign	Het
Traf3ip3	T	A	1: 193,178,231 (GRCm38)		probably null	Het
Trpm1	G	A	7: 64,223,758 (GRCm38)	G587D	probably damaging	Het
Ttn	A	G	2: 76,730,412 (GRCm38)	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,430,223 (GRCm38)	S2364A	probably benign	Het
Ush2a	T	A	1: 188,734,663 (GRCm38)		probably benign	Het
Vmn2r100	C	A	17: 19,522,120 (GRCm38)	P252Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,427,792 (GRCm38)	S317T	possibly damaging	Het
Vwa2	A	G	19: 56,898,068 (GRCm38)		probably benign	Het
Wdr73	G	A	7: 80,897,950 (GRCm38)	Q107*	probably null	Het
Zbtb10	T	A	3: 9,264,668 (GRCm38)	V362E	probably damaging	Het
Zfp217	C	T	2: 170,115,462 (GRCm38)	A539T	probably benign	Het
Zfp296	A	T	7: 19,577,906 (GRCm38)	M113L	probably benign	Het
Zfp729b	A	T	13: 67,591,134 (GRCm38)	V1004E	probably benign	Het

Other mutations in H2-Eb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:H2-Eb2	APN	17	34,334,367 (GRCm38)	missense	probably damaging	0.98
IGL00965:H2-Eb2	APN	17	34,325,797 (GRCm38)	splice site	probably null
IGL01380:H2-Eb2	APN	17	34,335,809 (GRCm38)	missense	probably benign	0.41
IGL02057:H2-Eb2	APN	17	34,335,767 (GRCm38)	splice site	probably benign
IGL02190:H2-Eb2	APN	17	34,334,374 (GRCm38)	missense	probably damaging	1.00
IGL02220:H2-Eb2	APN	17	34,325,687 (GRCm38)	utr 5 prime	probably benign
R0469:H2-Eb2	UTSW	17	34,334,244 (GRCm38)	nonsense	probably null
R1169:H2-Eb2	UTSW	17	34,333,357 (GRCm38)	missense	possibly damaging	0.89
R1334:H2-Eb2	UTSW	17	34,334,350 (GRCm38)	missense	probably damaging	0.99
R1598:H2-Eb2	UTSW	17	34,334,374 (GRCm38)	missense	probably damaging	1.00
R1991:H2-Eb2	UTSW	17	34,334,304 (GRCm38)	missense	probably benign	0.15
R2103:H2-Eb2	UTSW	17	34,334,304 (GRCm38)	missense	probably benign	0.15
R4191:H2-Eb2	UTSW	17	34,344,555 (GRCm38)	unclassified	probably benign
R4194:H2-Eb2	UTSW	17	34,333,326 (GRCm38)	missense	probably benign
R4461:H2-Eb2	UTSW	17	34,333,523 (GRCm38)	missense	possibly damaging	0.80
R4774:H2-Eb2	UTSW	17	34,334,401 (GRCm38)	missense	probably damaging	0.99
R4882:H2-Eb2	UTSW	17	34,334,256 (GRCm38)	missense	probably benign
R5663:H2-Eb2	UTSW	17	34,333,408 (GRCm38)	missense	possibly damaging	0.92
R6913:H2-Eb2	UTSW	17	34,333,549 (GRCm38)	missense	possibly damaging	0.89
R7139:H2-Eb2	UTSW	17	34,334,421 (GRCm38)	missense	probably benign	0.30
R7457:H2-Eb2	UTSW	17	34,334,347 (GRCm38)	missense	probably damaging	1.00
R9173:H2-Eb2	UTSW	17	34,333,517 (GRCm38)	missense	probably benign	0.37
Z1176:H2-Eb2	UTSW	17	34,334,309 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- AGACCCAACAGATCCTGCTGTCAG -3'
(R):5'- CAGAGTCAAGGGTTTCCCACTCAC -3'

Sequencing Primer
(F):5'- CTGTCAGGATTAACTTGAGGGAC -3'
(R):5'- CTGGCAGGTGTAAACCTCTC -3'

Posted On

2013-06-12