Mutagenetix > Incidental Mutation

Incidental Mutation 'R4164:Ighm'

321667

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

041638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4164 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113422295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 108 (E108V)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000103426
AA Change: E108V

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: E108V

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

unknown
Transcript: ENSMUST00000177715
AA Change: E108V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196624

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

89% (40/45)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	C	T	11: 69,890,037	A164T	probably benign	Het
Ash1l	A	G	3: 88,981,966	D384G	probably damaging	Het
Cntn5	A	G	9: 9,781,676	V666A	probably damaging	Het
Defb41	C	T	1: 18,260,597	C42Y	probably damaging	Het
Dennd4c	C	A	4: 86,807,527	N739K	probably benign	Het
Dnah6	C	T	6: 73,089,592	W2598*	probably null	Het
Ell	G	T	8: 70,581,573	R30L	probably damaging	Het
Fam189a2	G	A	19: 23,975,629	A439V	probably damaging	Het
Fam189a2	C	T	19: 23,975,638	S436N	probably damaging	Het
Fer1l6	A	C	15: 58,559,238	R247S	possibly damaging	Het
Flnb	A	T	14: 7,915,374	I1502F	possibly damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm2223	C	T	X: 33,505,784		noncoding transcript	Het
Ifi203	A	T	1: 173,928,463		probably benign	Het
Il23r	T	A	6: 67,423,663	Q561L	probably benign	Het
Kank1	A	G	19: 25,411,072	D703G	probably benign	Het
Kcnt2	A	T	1: 140,609,630	Y1109F	probably damaging	Het
Lamb2	T	A	9: 108,490,298	Y1760N	probably damaging	Het
Lrpprc	T	C	17: 84,731,189	E950G	possibly damaging	Het
Lrrc66	T	A	5: 73,629,776		probably null	Het
Mtbp	T	C	15: 55,609,521	V627A	probably benign	Het
Myo10	T	A	15: 25,726,415		probably null	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nipbl	T	C	15: 8,338,934	N1142S	probably benign	Het
Nrxn2	G	A	19: 6,532,143	V660I	probably damaging	Het
Oas1c	T	C	5: 120,808,139	E98G	probably damaging	Het
Olfr160	T	G	9: 37,711,698	I194L	probably benign	Het
Otx1	A	G	11: 21,996,638		probably benign	Het
Prkcd	A	G	14: 30,601,197	F461L	probably damaging	Het
Prune2	T	C	19: 17,003,734	F85S	possibly damaging	Het
Rnf214	G	A	9: 45,871,912	R184W	probably damaging	Het
Scn5a	T	C	9: 119,495,778	N1328S	probably damaging	Het
Secisbp2l	T	C	2: 125,751,883		probably benign	Het
Smarcal1	A	G	1: 72,626,689		probably benign	Het
Snx21	T	C	2: 164,786,850	Y138H	probably damaging	Het
Sox5	T	A	6: 144,116,480	R149W	probably damaging	Het
Spout1	C	T	2: 30,177,577		probably benign	Het
Tlr1	A	G	5: 64,927,202	C11R	possibly damaging	Het
Vmn2r23	A	T	6: 123,729,738	H509L	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
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
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'- TTGTTCTCGATGGTCACCG -3'
(R):5'- TCTCCCAAGAGCATCCTTGAAG -3'

Sequencing Primer
(F):5'- TCTCGATGGTCACCGGATCTG -3'
(R):5'- CCTTGAAGGTTCAGATGAATACCTGG -3'

Posted On

2015-06-12