Mutagenetix > Incidental Mutation

Incidental Mutation 'R7409:Ighm'

574945

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

045490-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R7409 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113422232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 129 (R129H)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: R129H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (82/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610301B20Rik	T	A	4: 10,881,834 (GRCm38)	C94S	probably benign	Het
2610507B11Rik	G	T	11: 78,268,757 (GRCm38)	R544L	probably damaging	Het
Adgrb2	C	T	4: 130,019,069 (GRCm38)	A1329V	probably benign	Het
Aida	A	G	1: 183,318,874 (GRCm38)	T215A	probably benign	Het
Alpk2	A	G	18: 65,306,952 (GRCm38)	S457P	probably benign	Het
Ap4b1	G	A	3: 103,812,158 (GRCm38)	V63I	probably damaging	Het
Apaf1	A	G	10: 91,067,246 (GRCm38)	V182A	probably damaging	Het
B4galnt4	G	A	7: 141,067,003 (GRCm38)		probably null	Het
Cacna1a	T	G	8: 84,533,402 (GRCm38)	D331E	probably damaging	Het
Carmil2	A	G	8: 105,692,791 (GRCm38)		probably null	Het
Cdkn1b	A	T	6: 134,921,317 (GRCm38)	Q133L	probably benign	Het
Cep192	G	C	18: 67,834,803 (GRCm38)	S786T	possibly damaging	Het
Cfap97	G	A	8: 46,192,696 (GRCm38)	R537H	probably benign	Het
Clpx	C	G	9: 65,324,247 (GRCm38)	A552G	possibly damaging	Het
Cryl1	G	A	14: 57,286,385 (GRCm38)	T240I	probably damaging	Het
Ddx60	C	A	8: 61,958,578 (GRCm38)	T488K	probably benign	Het
Dennd4b	A	G	3: 90,273,952 (GRCm38)	H805R	probably benign	Het
Dnmbp	T	C	19: 43,890,557 (GRCm38)	D25G	unknown	Het
Dysf	A	C	6: 84,149,682 (GRCm38)	D1293A	probably benign	Het
Efl1	T	C	7: 82,697,913 (GRCm38)	L549P	probably damaging	Het
Eif5	T	C	12: 111,540,263 (GRCm38)		probably benign	Het
Eva1c	A	G	16: 90,869,656 (GRCm38)	K156E	probably damaging	Het
Fbxw10	T	G	11: 62,876,780 (GRCm38)	V814G	possibly damaging	Het
Gfap	C	T	11: 102,894,532 (GRCm38)	R206Q	probably benign	Het
Gjb6	A	T	14: 57,124,153 (GRCm38)	L217*	probably null	Het
Gpatch11	T	A	17: 78,839,166 (GRCm38)	L80Q	probably damaging	Het
Gramd1b	T	C	9: 40,327,431 (GRCm38)	Q225R	probably damaging	Het
Gsdmc2	A	G	15: 63,833,346 (GRCm38)	S173P	possibly damaging	Het
Hars	C	G	18: 36,770,113 (GRCm38)	R388P	probably damaging	Het
Igsf9	A	G	1: 172,495,274 (GRCm38)	I602V	probably benign	Het
Inpp4b	T	G	8: 81,952,685 (GRCm38)		probably null	Het
Itch	C	A	2: 155,199,382 (GRCm38)	T450K	probably damaging	Het
Kcnq1	T	C	7: 143,109,415 (GRCm38)	F20L	unknown	Het
Kmt2d	G	T	15: 98,855,354 (GRCm38)	A153E	probably damaging	Het
Macf1	T	A	4: 123,504,470 (GRCm38)	N750I	probably damaging	Het
Marveld2	T	A	13: 100,611,476 (GRCm38)	H365L	probably damaging	Het
Med13l	T	A	5: 118,754,321 (GRCm38)	D1936E	probably benign	Het
Mettl8	A	T	2: 70,973,343 (GRCm38)	V200E	probably damaging	Het
Mrgbp	T	G	2: 180,585,342 (GRCm38)	S157A	possibly damaging	Het
Mrps35	A	G	6: 147,055,983 (GRCm38)	T169A	possibly damaging	Het
Mycbp2	A	T	14: 103,288,744 (GRCm38)	Y551N	probably damaging	Het
Myo18b	T	C	5: 112,874,105 (GRCm38)	R474G	probably benign	Het
Nfx1	T	A	4: 41,021,830 (GRCm38)	S979R	possibly damaging	Het
Nlrp1a	T	C	11: 71,122,808 (GRCm38)	T539A	probably benign	Het
Oca2	T	A	7: 56,414,397 (GRCm38)	D713E	probably benign	Het
Olfr433	T	A	1: 174,042,533 (GRCm38)	H194Q	probably benign	Het
Olfr60	C	T	7: 140,345,405 (GRCm38)	V195I	probably benign	Het
Olfr768	A	G	10: 129,093,212 (GRCm38)	I254T	probably damaging	Het
Olfr816	A	T	10: 129,912,251 (GRCm38)	V9D	possibly damaging	Het
Omt2b	A	C	9: 78,328,612 (GRCm38)	Y73S	probably benign	Het
Pde11a	G	T	2: 76,005,984 (GRCm38)	Q20K		Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm38)		probably benign	Het
Phrf1	C	A	7: 141,259,292 (GRCm38)	T800K	unknown	Het
Pramel4	T	C	4: 144,068,491 (GRCm38)	S486P	probably benign	Het
Proc	T	C	18: 32,127,460 (GRCm38)	D204G	probably benign	Het
Rasgrp3	T	A	17: 75,516,416 (GRCm38)	I494N	possibly damaging	Het
Samm50	A	G	15: 84,197,030 (GRCm38)	D53G	probably benign	Het
Satb1	T	C	17: 51,809,189 (GRCm38)	D22G	possibly damaging	Het
Scarf2	T	C	16: 17,807,054 (GRCm38)	S658P	probably damaging	Het
Sfta2	T	A	17: 35,614,518 (GRCm38)	I29K	unknown	Het
Slc15a4	A	T	5: 127,604,678 (GRCm38)	S292T	probably benign	Het
Slc37a1	C	T	17: 31,340,263 (GRCm38)	T439I	probably damaging	Het
Slc4a9	C	A	18: 36,530,805 (GRCm38)	P294Q	probably damaging	Het
Slc52a3	T	C	2: 152,004,166 (GRCm38)	S16P	probably damaging	Het
Slc6a15	A	G	10: 103,408,302 (GRCm38)	I468V	probably benign	Het
Spag17	A	T	3: 100,034,159 (GRCm38)	D738V	probably benign	Het
Spag17	T	C	3: 100,027,231 (GRCm38)	S610P	possibly damaging	Het
Ssbp4	T	C	8: 70,597,967 (GRCm38)	R269G	unknown	Het
Tbl1xr1	A	G	3: 22,203,190 (GRCm38)	T406A	possibly damaging	Het
Tep1	A	T	14: 50,866,855 (GRCm38)	V194D	possibly damaging	Het
Thbs4	A	T	13: 92,773,259 (GRCm38)	C343*	probably null	Het
Tmed10	A	T	12: 85,344,291 (GRCm38)	S158T	possibly damaging	Het
Trbv3	T	A	6: 41,048,590 (GRCm38)	V38E	probably damaging	Het
Ttc6	T	C	12: 57,696,986 (GRCm38)	M1258T	probably damaging	Het
Ttn	T	C	2: 76,758,976 (GRCm38)	D21281G	probably damaging	Het
Twistnb	T	G	12: 33,436,989 (GRCm38)	C150W	possibly damaging	Het
Usp54	T	C	14: 20,552,245 (GRCm38)	R1346G	probably damaging	Het
Vmn2r8	C	A	5: 108,808,583 (GRCm38)	E58*	probably null	Het
Vps13d	C	T	4: 145,141,254 (GRCm38)	E2009K		Het
Vps33b	T	C	7: 80,285,269 (GRCm38)	I320T	probably damaging	Het
Vwa8	A	C	14: 78,982,234 (GRCm38)		probably null	Het
Ythdf1	T	C	2: 180,911,993 (GRCm38)	Y143C	probably damaging	Het
Zfp213	C	T	17: 23,559,629 (GRCm38)		probably null	Het
Zfp219	A	T	14: 52,007,113 (GRCm38)	Y536*	probably null	Het

Other mutations in Ighm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Ighm	APN	12	113,421,234 (GRCm38)	unclassified	probably benign
IGL01775:Ighm	APN	12	113,422,467 (GRCm38)	missense	unknown
IGL02069:Ighm	APN	12	113,421,148 (GRCm38)	unclassified	probably benign
IGL03124:Ighm	APN	12	113,421,638 (GRCm38)	missense	unknown
Destiny	UTSW	12	113,421,545 (GRCm38)	missense
manifest	UTSW	12	113,421,253 (GRCm38)	nonsense	probably null
G1Funyon:Ighm	UTSW	12	113,421,545 (GRCm38)	missense
R3055:Ighm	UTSW	12	113,418,976 (GRCm38)	unclassified	probably benign
R3056:Ighm	UTSW	12	113,418,976 (GRCm38)	unclassified	probably benign
R4164:Ighm	UTSW	12	113,422,295 (GRCm38)	missense	unknown
R4475:Ighm	UTSW	12	113,420,893 (GRCm38)	unclassified	probably benign
R4871:Ighm	UTSW	12	113,421,621 (GRCm38)	missense	unknown
R5542:Ighm	UTSW	12	113,418,981 (GRCm38)	unclassified	probably benign
R5738:Ighm	UTSW	12	113,421,495 (GRCm38)	missense	unknown
R5856:Ighm	UTSW	12	113,421,602 (GRCm38)	missense	unknown
R5946:Ighm	UTSW	12	113,422,709 (GRCm38)	missense	unknown
R6267:Ighm	UTSW	12	113,421,567 (GRCm38)	missense	unknown
R6296:Ighm	UTSW	12	113,421,567 (GRCm38)	missense	unknown
R7492:Ighm	UTSW	12	113,422,673 (GRCm38)	missense
R7898:Ighm	UTSW	12	113,421,253 (GRCm38)	nonsense	probably null
R8089:Ighm	UTSW	12	113,421,234 (GRCm38)	unclassified	probably benign
R8301:Ighm	UTSW	12	113,421,545 (GRCm38)	missense
R8444:Ighm	UTSW	12	113,421,193 (GRCm38)	missense
R9378:Ighm	UTSW	12	113,422,590 (GRCm38)	missense
R9447:Ighm	UTSW	12	113,421,174 (GRCm38)	missense
R9674:Ighm	UTSW	12	113,421,519 (GRCm38)	missense
R9733:Ighm	UTSW	12	113,422,477 (GRCm38)	missense	probably benign	0.03
R9803:Ighm	UTSW	12	113,419,015 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- TCAGCCAGTCGATTTCAGAG -3'
(R):5'- AACAAAGATCTGCATGTGCCC -3'

Sequencing Primer
(F):5'- CCAGTCGATTTCAGAGATGGTAAGTG -3'
(R):5'- ATGTGCCCATTCCAGGTAAG -3'

Posted On

2019-10-07