Mutagenetix > Incidental Mutation

Incidental Mutation 'R3055:Ighm'

477615

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

040564-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R3055 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113418558-113422730 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 113418976 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: S466C

Predicted Effect

probably benign
Transcript: ENSMUST00000192250

Predicted Effect

probably benign
Transcript: ENSMUST00000194162

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	A	G	14: 4,348,878 (GRCm38)	E13G	probably damaging	Het
5730596B20Rik	A	T	6: 52,179,128 (GRCm38)		probably benign	Het
Aadacl4fm4	A	G	4: 144,674,698 (GRCm38)	I72T	probably benign	Het
Abca16	A	G	7: 120,435,851 (GRCm38)	M287V	probably benign	Het
Abca7	G	A	10: 79,999,747 (GRCm38)	R283H	probably damaging	Het
Acad11	A	G	9: 104,076,336 (GRCm38)	I126V	probably damaging	Het
Ahrr	A	G	13: 74,224,887 (GRCm38)	V148A	probably damaging	Het
Aldh1l2	T	C	10: 83,502,472 (GRCm38)	K528E	probably benign	Het
Atp6v0a2	T	A	5: 124,627,144 (GRCm38)		probably benign	Het
Atxn10	A	G	15: 85,387,005 (GRCm38)	D248G	probably benign	Het
Bard1	A	G	1: 71,088,231 (GRCm38)	V73A	possibly damaging	Het
Catsper3	T	C	13: 55,808,896 (GRCm38)	S376P	unknown	Het
Ccdc150	A	G	1: 54,288,842 (GRCm38)	N361S	possibly damaging	Het
Cxcr6	A	T	9: 123,810,464 (GRCm38)	I177F	probably damaging	Het
Ddx25	A	G	9: 35,551,351 (GRCm38)	V246A	probably damaging	Het
Drd4	T	C	7: 141,294,479 (GRCm38)	V319A	probably damaging	Het
Dscam	G	A	16: 96,801,355 (GRCm38)	T629I	probably damaging	Het
Evi5l	C	T	8: 4,191,603 (GRCm38)	R311*	probably null	Het
Fxr1	A	G	3: 34,049,184 (GRCm38)	E221G	probably damaging	Het
Gldn	A	T	9: 54,338,523 (GRCm38)	T453S	probably damaging	Het
Ints12	G	A	3: 133,109,365 (GRCm38)	M444I	possibly damaging	Het
Lgr5	T	A	10: 115,466,123 (GRCm38)		probably benign	Het
Mier3	T	A	13: 111,691,303 (GRCm38)	D7E	probably damaging	Het
Mms19	A	T	19: 41,950,088 (GRCm38)		probably benign	Het
Mrpl20	G	T	4: 155,803,872 (GRCm38)	V43F	possibly damaging	Het
Muc5b	G	T	7: 141,864,041 (GRCm38)	V3575F	probably damaging	Het
Naip5	T	C	13: 100,221,878 (GRCm38)	Y950C	probably benign	Het
Or4d2	A	G	11: 87,893,372 (GRCm38)	V184A	possibly damaging	Het
Or5t9	T	C	2: 86,829,127 (GRCm38)	F125S	possibly damaging	Het
Or8b12b	G	T	9: 37,773,193 (GRCm38)	C178F	probably damaging	Het
Pkd1l2	T	A	8: 117,068,315 (GRCm38)		probably null	Het
Prune2	A	G	19: 17,125,043 (GRCm38)	E2522G	probably damaging	Het
Radil	T	C	5: 142,495,406 (GRCm38)	T549A	possibly damaging	Het
Radx	T	A	X: 139,511,557 (GRCm38)	V439E	possibly damaging	Het
Rasa2	G	A	9: 96,611,473 (GRCm38)	L53F	possibly damaging	Het
Rasgrf2	A	G	13: 92,029,075 (GRCm38)	F306L	probably damaging	Het
Rbm19	C	T	5: 120,133,010 (GRCm38)	R633C	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,873,717 (GRCm38)		probably benign	Het
Slc4a4	T	C	5: 89,225,948 (GRCm38)	V971A	probably damaging	Het
Slc4a4	T	A	5: 89,132,507 (GRCm38)	L353H	probably damaging	Het
Stil	T	A	4: 115,014,069 (GRCm38)		probably benign	Het
Tjp3	T	C	10: 81,280,507 (GRCm38)	K251R	probably benign	Het
Ugt2b35	A	T	5: 87,001,598 (GRCm38)	Y236F	probably benign	Het
Utp14b	T	A	1: 78,664,725 (GRCm38)	D113E	possibly damaging	Het
Vmn1r121	G	A	7: 21,098,465 (GRCm38)	Q17*	probably null	Het
Vmn2r28	A	T	7: 5,481,392 (GRCm38)	L603Q	probably damaging	Het
Vps13b	A	G	15: 35,646,361 (GRCm38)	E1537G	probably damaging	Het
Xrcc4	T	C	13: 90,062,077 (GRCm38)	T83A	probably benign	Het
Yae1d1	T	C	13: 17,993,242 (GRCm38)	E22G	probably damaging	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
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
R7409:Ighm	UTSW	12	113,422,232 (GRCm38)	missense
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

Posted On

2017-05-15