Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Ighm'

731573

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

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R9733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113422477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 84 (E84D)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103426
AA Change: E84D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: E84D

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

probably benign
Transcript: ENSMUST00000177715
AA Change: E84D

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,334,795		probably benign	Het
4930595D18Rik	T	A	12: 111,161,820		probably benign	Het
4932438A13Rik	T	A	3: 37,048,583	M1437K		Het
Alpi	C	T	1: 87,100,794	A125T	probably benign	Het
Alppl2	T	A	1: 87,087,235	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,989,998	L836*	probably null	Het
Arv1	T	C	8: 124,731,919	Y261H	probably damaging	Het
Atf6	C	T	1: 170,834,833	S286N	probably benign	Het
Atl3	G	A	19: 7,532,340	G478R	probably damaging	Het
Avil	C	T	10: 127,007,842	R184C	probably damaging	Het
B020004J07Rik	A	G	4: 101,835,768	V345A	possibly damaging	Het
Bcl6b	A	G	11: 70,228,497	I131T	probably damaging	Het
Catsper3	T	C	13: 55,798,939	S150P	probably damaging	Het
Cd7	A	G	11: 121,037,811	S132P	probably benign	Het
Cfh	T	C	1: 140,088,795	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,915,511	K601Q	probably benign	Het
Cp	A	G	3: 19,978,962	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,808,104	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,565,713	D328G	probably damaging	Het
Eapp	A	T	12: 54,692,956	S25R	probably damaging	Het
Ebag9	T	A	15: 44,627,637		probably null	Het
Exog	G	A	9: 119,462,520	E288K	possibly damaging	Het
Fads2	A	T	19: 10,070,576	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,217,010	S220R	possibly damaging	Het
Fcgbp	T	A	7: 28,103,587	C1539S	probably damaging	Het
Fuk	T	C	8: 110,888,931	T589A	probably benign	Het
Fv1	C	T	4: 147,870,164	R396W	probably damaging	Het
Fv1	T	C	4: 147,870,197	F407L	probably benign	Het
Glp2r	T	C	11: 67,757,541	T112A	probably benign	Het
Gm5346	T	C	8: 43,626,149	N346S	possibly damaging	Het
Hydin	T	C	8: 110,535,379	I2704T	probably benign	Het
Ikzf5	A	G	7: 131,392,283	V205A	probably benign	Het
Kcnt1	G	T	2: 25,907,339	V844L	probably benign	Het
Kif2a	A	C	13: 106,969,796	S528R	probably damaging	Het
Klhl29	G	A	12: 5,140,641	T118M	probably damaging	Het
Krt4	C	A	15: 101,919,129	G492C	unknown	Het
Lama1	T	A	17: 67,809,945	I2441N		Het
Lin7a	T	C	10: 107,412,044	V192A	possibly damaging	Het
March8	T	A	6: 116,402,029	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,947,248	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,178,734	S73P	probably damaging	Het
Muc6	G	T	7: 141,636,397	P2788T	unknown	Het
Ncf1	T	C	5: 134,222,045	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177	M122T	probably benign	Het
Nfil3	C	T	13: 52,967,555	A438T	probably damaging	Het
Noc2l	T	G	4: 156,243,565	I504S	probably damaging	Het
Nphs1	T	C	7: 30,467,530	C735R	probably damaging	Het
Olfr1166	C	A	2: 88,124,656	V110L	probably damaging	Het
Olfr1380	T	C	11: 49,564,134	L71P	probably damaging	Het
Olfr6	A	C	7: 106,956,639	L99R	possibly damaging	Het
Olfr981	A	T	9: 40,022,875	S161C	probably benign	Het
Pcdhac1	A	G	18: 37,092,453	H773R	probably benign	Het
Pcnt	A	G	10: 76,401,480	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,322,200	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,230,596	M197K	probably damaging	Het
Plekho1	C	T	3: 95,995,779	G7S	probably benign	Het
Prl7d1	A	C	13: 27,714,356	S57A	probably benign	Het
Prpf3	A	G	3: 95,834,200	V548A	possibly damaging	Het
Prss56	C	T	1: 87,183,497	P2L	possibly damaging	Het
Ric1	A	G	19: 29,602,630	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 129,084,019	D676E	probably damaging	Het
Rph3a	T	A	5: 120,962,458	T126S	probably benign	Het
Sh3gl3	T	C	7: 82,268,354		probably null	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,801,101	V126A	probably benign	Het
Snrnp200	A	T	2: 127,226,320	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,115,283	N435S	probably damaging	Het
Tab2	A	G	10: 7,919,450	S349P	possibly damaging	Het
Tie1	A	T	4: 118,472,986	W1040R	probably null	Het
Tnni3k	A	T	3: 154,856,607	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,622,017	V40A	possibly damaging	Het
Ttn	G	A	2: 76,746,035	S24838L	probably damaging	Het
Ttn	A	G	2: 76,895,316	W6158R	unknown	Het
Vegfa	T	C	17: 46,024,475	S298G	probably damaging	Het
Zer1	T	C	2: 30,107,631	K421R	probably benign	Het
Zfp959	C	A	17: 55,897,866	T301N	probably benign	Het

Other mutations in Ighm

Allele	Source	Chr	Coord	Type	Predicted Effect
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
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
R9803:Ighm	UTSW	12	113419015	missense

Predicted Primers

PCR Primer
(F):5'- TTGGGGTTCATCTCTGCGAC -3'
(R):5'- CCCTGTCTGATAAGAATCTGGTG -3'

Sequencing Primer
(F):5'- TCATCTCTGCGACAGCTGGAATG -3'
(R):5'- CTGATAAGAATCTGGTGGCCATG -3'

Posted On

2022-11-14