Mutagenetix > Incidental Mutation

Incidental Mutation 'R8089:Ighm'

629857

Institutional Source

Beutler Lab

Gene Symbol

Ighm

Ensembl Gene

ENSMUSG00000076617

Gene Name

immunoglobulin heavy constant mu

Synonyms

muH, IgM, Igh6, Igh-M, Ig mu

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R8089 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 113421234 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: Y333C

Domain	Start	End	E-Value	Type
IG_like	23	99	1.94e-2	SMART
IGc1	131	209	2.37e-14	SMART
IG_like	241	315	1.6e-2	SMART
IGc1	348	425	1.94e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175007

Predicted Effect

probably benign
Transcript: ENSMUST00000192250

Predicted Effect

probably benign
Transcript: ENSMUST00000194162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196624

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 94.7%

Validation Efficiency

93% (54/58)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal immune system morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,274,039	V768I	probably benign	Het
Abcc8	G	A	7: 46,108,356	T1323I	probably benign	Het
Adamtsl2	A	G	2: 27,104,797	M828V	probably benign	Het
Agmo	A	G	12: 37,347,307	D153G	probably benign	Het
Akap13	T	A	7: 75,610,592	V185D	possibly damaging	Het
Asic1	A	G	15: 99,698,087	N414D	probably damaging	Het
Bin1	T	A	18: 32,429,183		probably null	Het
Ccar1	C	A	10: 62,790,991	M1I	probably null	Het
Cdh26	T	A	2: 178,457,577		probably null	Het
Csmd3	C	T	15: 47,669,207	D1620N		Het
Dennd4a	A	T	9: 64,849,175	N204I	probably damaging	Het
Dgkb	G	A	12: 38,184,950	S438N	probably damaging	Het
Dmxl1	T	C	18: 49,888,830	M1604T	probably damaging	Het
Fhad1	T	A	4: 141,957,660	D456V	probably damaging	Het
Gcfc2	C	T	6: 81,925,790	T86M	probably damaging	Het
Idua	T	A	5: 108,681,780	M503K	probably damaging	Het
Kdelc2	C	T	9: 53,395,962	A402V	probably benign	Het
Kmt2d	A	T	15: 98,842,869	S4676T	unknown	Het
Ldlrad1	G	A	4: 107,209,491	A8T	probably benign	Het
Lmtk2	G	A	5: 144,156,900	V232M	probably benign	Het
Map3k13	T	C	16: 21,903,817	V243A	possibly damaging	Het
Moxd1	A	G	10: 24,281,519	T350A	probably benign	Het
Nalcn	A	T	14: 123,299,960	W1175R	probably damaging	Het
Olfr197	T	G	16: 59,185,710	I258L	unknown	Het
Olfr819	A	T	10: 129,966,697	M1K	probably null	Het
Olfr943	T	A	9: 39,184,631	V148E	probably damaging	Het
Pacsin2	A	G	15: 83,379,696	I380T	probably benign	Het
Plcd1	A	C	9: 119,075,992	C214G	possibly damaging	Het
Ptprm	C	A	17: 66,683,488	W1385L	possibly damaging	Het
Rab22a	C	T	2: 173,688,220	Q64*	probably null	Het
Rasa2	G	T	9: 96,553,124	H604Q	probably benign	Het
Rasal1	G	A	5: 120,671,578	G516D	probably damaging	Het
Rasgrp3	A	T	17: 75,497,061	I120L	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rgs12	T	C	5: 35,020,348	I742T	probably damaging	Het
Scyl3	A	G	1: 163,936,427	T121A	possibly damaging	Het
Six5	T	G	7: 19,094,872	F79C	probably damaging	Het
Tbx3	G	A	5: 119,680,569	R423H	probably damaging	Het
Terf2ip	C	T	8: 112,011,792	T104M	probably benign	Het
Tmem135	A	G	7: 89,156,495	C234R	probably damaging	Het
Tnxb	C	G	17: 34,672,789	A702G	unknown	Het
Tspan1	T	C	4: 116,164,335	K83R	probably null	Het
Ttc30b	T	C	2: 75,937,303	T369A	possibly damaging	Het
Ttn	C	T	2: 76,898,062		probably null	Het
Usp5	A	T	6: 124,820,410		probably null	Het
Vmn1r27	T	A	6: 58,215,209	Y270F	possibly damaging	Het
Vmn2r110	G	A	17: 20,583,545	T256I	probably benign	Het
Zfp831	T	A	2: 174,644,924	L464Q	possibly damaging	Het
Zscan4-ps3	C	A	7: 11,612,732	H232N	probably benign	Het

Other mutations in Ighm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Ighm	APN	12	113421234	unclassified	probably benign
IGL01775:Ighm	APN	12	113422467	missense	unknown
IGL02069:Ighm	APN	12	113421148	unclassified	probably benign
IGL03124:Ighm	APN	12	113421638	missense	unknown
Destiny	UTSW	12	113421545	missense
manifest	UTSW	12	113421253	nonsense	probably null
G1Funyon:Ighm	UTSW	12	113421545	missense
R3055:Ighm	UTSW	12	113418976	unclassified	probably benign
R3056:Ighm	UTSW	12	113418976	unclassified	probably benign
R4164:Ighm	UTSW	12	113422295	missense	unknown
R4475:Ighm	UTSW	12	113420893	unclassified	probably benign
R4871:Ighm	UTSW	12	113421621	missense	unknown
R5542:Ighm	UTSW	12	113418981	unclassified	probably benign
R5738:Ighm	UTSW	12	113421495	missense	unknown
R5856:Ighm	UTSW	12	113421602	missense	unknown
R5946:Ighm	UTSW	12	113422709	missense	unknown
R6267:Ighm	UTSW	12	113421567	missense	unknown
R6296:Ighm	UTSW	12	113421567	missense	unknown
R7409:Ighm	UTSW	12	113422232	missense
R7492:Ighm	UTSW	12	113422673	missense
R7898:Ighm	UTSW	12	113421253	nonsense	probably null
R8301:Ighm	UTSW	12	113421545	missense
R8444:Ighm	UTSW	12	113421193	missense
R9378:Ighm	UTSW	12	113422590	missense
R9447:Ighm	UTSW	12	113421174	missense
R9674:Ighm	UTSW	12	113421519	missense
R9733:Ighm	UTSW	12	113422477	missense	probably benign	0.03
R9803:Ighm	UTSW	12	113419015	missense

Predicted Primers

PCR Primer
(F):5'- CTCTGTCACAGTCAGGATGCTG -3'
(R):5'- TGTGACTCACAGGGATCTGC -3'

Sequencing Primer
(F):5'- TGCTGTGGGTAAAGTAGAAGCCTG -3'
(R):5'- GACTCACAGGGATCTGCCTTCAC -3'

Posted On

2020-06-30