Mutagenetix > Incidental Mutation

Incidental Mutation 'R5542:Ighm'

436053

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

043100-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R5542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 113418981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103426

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617

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

unknown
Transcript: ENSMUST00000177715
AA Change: F464S

Predicted Effect

probably benign
Transcript: ENSMUST00000192250

Predicted Effect

probably benign
Transcript: ENSMUST00000194162

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	T	19: 5,503,435	V106D	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,489	I1847F	probably damaging	Het
Aadacl2	C	T	3: 60,025,063	T333I	probably damaging	Het
Acacb	C	T	5: 114,195,737	R574C	probably damaging	Het
Actr10	T	C	12: 70,954,656		probably benign	Het
Ankdd1a	T	A	9: 65,504,190		probably null	Het
Anks4b	C	T	7: 120,182,423	Q226*	probably null	Het
AW146154	C	A	7: 41,481,377	G105V	probably benign	Het
Ccdc129	C	A	6: 55,978,395	P996Q	probably damaging	Het
Cdh4	T	A	2: 179,860,226	N326K	probably damaging	Het
Cnbd1	T	C	4: 18,860,517	T410A	possibly damaging	Het
Cndp2	A	T	18: 84,672,076	M247K	probably damaging	Het
Crx	G	A	7: 15,868,337	R139C	probably damaging	Het
Ctrc	A	G	4: 141,843,726	Y68H	probably damaging	Het
Ddx4	T	C	13: 112,621,245	D326G	probably damaging	Het
Edem1	C	T	6: 108,854,329	R584C	possibly damaging	Het
Emcn	A	G	3: 137,379,877	T79A	probably benign	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Fbrsl1	C	T	5: 110,378,441	G437R	probably damaging	Het
Fbxo7	A	C	10: 86,033,285	Q201P	probably benign	Het
Fbxo9	T	C	9: 78,101,656	M12V	possibly damaging	Het
Flii	A	G	11: 60,718,862	S640P	probably benign	Het
Fsip2	A	T	2: 82,981,863	N2842I	possibly damaging	Het
Fst	G	T	13: 114,455,705	Q159K	probably damaging	Het
Fuom	A	T	7: 140,100,112	*109R	probably null	Het
Gm9573	T	C	17: 35,622,503		probably benign	Het
Gm9992	A	T	17: 7,369,788	C334S	probably benign	Het
Hhipl2	A	G	1: 183,433,146	D377G	probably damaging	Het
Hspa14	A	G	2: 3,502,523	V116A	possibly damaging	Het
Ighv1-85	T	A	12: 116,000,227	Y51F	probably benign	Het
Ighv2-3	A	T	12: 113,611,213	D107E	probably benign	Het
Ighv2-6-8	T	A	12: 113,796,567	M1L	probably benign	Het
Ipo5	T	C	14: 120,926,271	V247A	probably benign	Het
Itga9	T	C	9: 118,843,661	F154L	possibly damaging	Het
Knl1	T	A	2: 119,068,348	C177S	possibly damaging	Het
Lrrc17	G	A	5: 21,575,158	G377S	probably damaging	Het
Marveld3	A	T	8: 109,948,617	I189K	probably benign	Het
Msantd2	G	A	9: 37,517,259	G185R	probably damaging	Het
Mtcl1	G	A	17: 66,384,359		probably benign	Het
Mycbpap	A	T	11: 94,507,746		probably null	Het
Nbeal1	A	G	1: 60,277,194	D1852G	probably benign	Het
Ndc80	A	T	17: 71,500,281	V560D	probably benign	Het
Olfr1505	T	C	19: 13,919,047	V9A	probably benign	Het
Olfr2	A	T	7: 107,001,079	S260R	probably damaging	Het
Olfr330	A	C	11: 58,529,884	V34G	probably benign	Het
Olfr384	T	A	11: 73,603,204	V208E	possibly damaging	Het
Olfr679	A	T	7: 105,086,358	D214V	probably damaging	Het
Pcdhga4	A	T	18: 37,686,598	Y400F	probably damaging	Het
Pkd2	A	G	5: 104,486,649		silent	Het
Plxna4	T	A	6: 32,206,230	I913F	probably damaging	Het
Psmc1	T	C	12: 100,120,140		probably null	Het
Robo2	G	A	16: 73,898,965	T1430I	probably benign	Het
Safb2	G	A	17: 56,575,647	R329C	probably damaging	Het
Sept14	T	C	5: 129,697,862	H83R	probably damaging	Het
Slc16a10	A	G	10: 40,076,788	F237L	probably benign	Het
Slc37a1	A	T	17: 31,340,262	T439S	probably damaging	Het
Slc6a6	T	C	6: 91,735,189	F233S	probably damaging	Het
Smyd3	A	T	1: 179,410,459	D114E	probably benign	Het
Sned1	T	C	1: 93,271,602	I468T	probably benign	Het
Speer4a	T	A	5: 26,036,738	N130I	probably damaging	Het
Tdrd7	T	C	4: 46,029,757	V1030A	probably benign	Het
Trip12	A	T	1: 84,749,344	D1135E	probably damaging	Het
Tsga10	T	A	1: 37,761,517	D542V	probably damaging	Het
Ubqlnl	G	A	7: 104,149,697	Q198*	probably null	Het
Usp46	A	T	5: 74,029,241	M43K	probably benign	Het
Vmn1r175	A	T	7: 23,809,106	I32N	possibly damaging	Het
Vmn1r29	C	T	6: 58,308,123	T276I	probably benign	Het
Vmn1r81	A	T	7: 12,260,107	D191E	probably damaging	Het
Zbtb5	C	A	4: 44,995,052	V111F	probably damaging	Het
Zfp12	C	T	5: 143,244,485	P189L	possibly damaging	Het
Zfp729b	A	G	13: 67,591,021	F1042L	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
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
R8089:Ighm	UTSW	12	113421234	unclassified	probably benign
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'- GAGGATCTCTTGGTCTCTGC -3'
(R):5'- GCTTGAGCTATTAGGGGACC -3'

Sequencing Primer
(F):5'- GCTGTCCTTCCATGCTGAGAG -3'
(R):5'- GTCAATACTCGCTAAGATTCTCCAG -3'

Posted On

2016-10-24