Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Ighm'

580865

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: 0.101) question?

Stock #

R7492 (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 C at 113422673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 19 (D19G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000100222
Gene: ENSMUSG00000076617
AA Change: D19G

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: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 82,064,359	D819G	possibly damaging	Het
A830010M20Rik	G	A	5: 107,510,507	E1648K	probably benign	Het
Abca13	A	T	11: 9,293,167	I1677L	probably benign	Het
Ablim2	A	G	5: 35,841,329	S367G	probably benign	Het
Afdn	G	C	17: 13,848,376		probably null	Het
Aldh6a1	A	G	12: 84,436,866	L302P	probably damaging	Het
Ank3	A	G	10: 69,882,527	D536G	unknown	Het
Ankrd17	A	G	5: 90,233,948	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,717,456	E85K	possibly damaging	Het
Atmin	A	G	8: 116,956,918	D439G	probably damaging	Het
AU040320	G	T	4: 126,847,855	C952F	possibly damaging	Het
BC055324	A	G	1: 163,959,328	I724T	probably benign	Het
C6	A	G	15: 4,731,714	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009		probably null	Het
Cntn1	A	C	15: 92,314,542	T862P	probably benign	Het
Col5a1	T	C	2: 27,969,800		probably null	Het
D430041D05Rik	T	C	2: 104,201,305	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,686,793	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,107,680	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,878,401	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,271,279	I51F	probably benign	Het
Fbln1	G	A	15: 85,227,061	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,664,530		probably null	Het
Fech	C	T	18: 64,467,771	W220*	probably null	Het
Fgl1	C	T	8: 41,191,587	W293*	probably null	Het
Foxi2	T	C	7: 135,410,572	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Galnt5	T	A	2: 58,026,036		probably null	Het
Glb1	A	T	9: 114,473,949	I618F	probably damaging	Het
Gm13083	C	A	4: 143,616,174	Q284K	not run	Het
Hs2st1	A	T	3: 144,435,596	M237K	probably benign	Het
Il1f10	A	G	2: 24,292,817	D35G	probably benign	Het
Itpr2	G	A	6: 146,390,938	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,350,318	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,790,239	D991G	probably benign	Het
Klhl18	A	C	9: 110,428,775	Y532*	probably null	Het
Lama1	T	C	17: 67,817,651	F2902S		Het
Lrba	T	C	3: 86,664,528	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,537,581	I196F	probably damaging	Het
Macf1	T	C	4: 123,475,731	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,291,794	Y1002H	probably benign	Het
Megf8	A	G	7: 25,353,848	T1815A	probably benign	Het
Mtg1	T	C	7: 140,144,697	L162P	probably damaging	Het
Myo6	T	A	9: 80,288,046	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,557,656	D233V	probably damaging	Het
Olfr1083-ps	T	A	2: 86,606,719	N284I	unknown	Het
Olfr122	A	T	17: 37,771,680	Q9L	possibly damaging	Het
Olfr1295	C	A	2: 111,564,821	V208L	probably benign	Het
Olfr30	T	A	11: 58,455,889	N20I	probably benign	Het
Olfr770	T	A	10: 129,133,640	I43F	probably damaging	Het
Parvb	A	T	15: 84,290,450	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,423,444	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,676,125	T544S	probably benign	Het
Pkd1	C	G	17: 24,569,741	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,068,110	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,251,764	E166*	probably null	Het
Pnpt1	A	G	11: 29,135,522	I138V	probably benign	Het
Pou4f3	T	C	18: 42,395,931	L313P	probably damaging	Het
Prep	A	G	10: 45,120,814	Y396C	probably damaging	Het
Prkd3	A	T	17: 78,962,545	C562*	probably null	Het
Prss12	T	A	3: 123,482,776	C351*	probably null	Het
Rnf41	C	A	10: 128,438,414	H312N	probably damaging	Het
Ror1	C	T	4: 100,441,059	T543I	probably benign	Het
Rreb1	G	A	13: 37,931,748	V1028I	probably benign	Het
Setd2	T	A	9: 110,594,632	S474T		Het
Slc1a2	T	A	2: 102,739,930	C184*	probably null	Het
Slc2a4	G	A	11: 69,946,376	T78I	probably benign	Het
Slc4a4	T	A	5: 89,129,650	I317N	possibly damaging	Het
Smad9	G	A	3: 54,786,326		probably null	Het
Sst	T	C	16: 23,889,826	E85G	probably damaging	Het
Svep1	T	G	4: 58,066,468	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,541,966	S647R	probably benign	Het
Tmem173	T	C	18: 35,738,713	Y162C	probably damaging	Het
Trnt1	T	C	6: 106,774,532	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,673,136	H831L	probably benign	Het
Vmn1r121	A	G	7: 21,098,170	F115S	probably damaging	Het
Vwa7	A	G	17: 35,019,044	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,981	K300N	probably null	Het
Zfp418	A	G	7: 7,181,397	T120A	possibly damaging	Het
Zfp687	C	T	3: 95,007,530	R1220H	probably damaging	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
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
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'- CCGTAGTGGATTTTGCATACCAG -3'
(R):5'- GCCTGCCTTAAGAGTAGCAAC -3'

Sequencing Primer
(F):5'- AACCTTCAAGGATGCTCTTGG -3'
(R):5'- CTTAAGAGTAGCAACAAGGAAATAGC -3'

Posted On

2019-10-17