Mutagenetix > Incidental Mutation

Incidental Mutation 'R6713:Ighe'

529224

Institutional Source

Beutler Lab

Gene Symbol

Ighe

Ensembl Gene

ENSMUSG00000087642

Gene Name

Immunoglobulin heavy constant epsilon

Synonyms

Gm900, LOC380792

MMRRC Submission

044831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113232883-113236868 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 113232908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000137336

SMART Domains

Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642

Domain	Start	End	E-Value	Type
IGc1	18	85	2.5e-6	SMART
IG_like	116	190	2.3e-5	SMART
IG_like	221	295	3e-4	SMART
low complexity region	310	323	N/A	INTRINSIC
IGc1	325	402	7.4e-35	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000223335
AA Change: Y477C

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol10a	C	T	15: 77,373,051 (GRCm39)	T229M	possibly damaging	Het
Cdh16	G	A	8: 105,346,617 (GRCm39)	Q226*	probably null	Het
Cemip	A	T	7: 83,592,845 (GRCm39)	N1227K	probably benign	Het
Dusp13b	A	G	14: 21,798,541 (GRCm39)	V41A	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fyb2	T	A	4: 104,847,432 (GRCm39)	M484K	probably benign	Het
Glb1l	A	T	1: 75,179,061 (GRCm39)	H253Q	probably benign	Het
Grm8	T	C	6: 27,363,190 (GRCm39)	E775G	probably damaging	Het
Hipk3	C	T	2: 104,276,916 (GRCm39)	V388M	probably damaging	Het
Kif14	A	G	1: 136,453,544 (GRCm39)	T1491A	probably benign	Het
Klre1	A	G	6: 129,559,229 (GRCm39)		probably null	Het
Kpna6	A	T	4: 129,547,777 (GRCm39)	L257M	probably damaging	Het
Ldhc	G	A	7: 46,515,955 (GRCm39)		probably null	Het
Lekr1	C	A	3: 65,591,380 (GRCm39)	A39D	probably benign	Het
Lins1	A	G	7: 66,358,230 (GRCm39)	T122A	probably benign	Het
Lrrc40	G	A	3: 157,769,350 (GRCm39)	R516Q	probably benign	Het
Meis3	G	T	7: 15,916,255 (GRCm39)	G72*	probably null	Het
Mpo	A	G	11: 87,686,194 (GRCm39)	T115A	probably damaging	Het
Mrgprb5	A	G	7: 47,818,537 (GRCm39)	V66A	probably damaging	Het
Myo1c	C	T	11: 75,562,461 (GRCm39)	P918S	probably benign	Het
Nags	C	A	11: 102,037,347 (GRCm39)	A146E	probably benign	Het
Nkain4	C	T	2: 180,585,970 (GRCm39)	G31D	probably damaging	Het
Or2y1	T	G	11: 49,385,784 (GRCm39)	C141W	probably damaging	Het
Or4k1	T	A	14: 50,377,181 (GRCm39)	H305L	probably benign	Het
Or5ak24	A	C	2: 85,260,883 (GRCm39)	C97G	probably damaging	Het
Or8a1	A	G	9: 37,641,560 (GRCm39)	C240R	probably damaging	Het
Otud6b	C	T	4: 14,822,739 (GRCm39)	V122I	probably benign	Het
Ovca2	C	T	11: 75,069,569 (GRCm39)	S18N	possibly damaging	Het
Pax2	A	G	19: 44,823,916 (GRCm39)	S370G	unknown	Het
Pias2	G	A	18: 77,153,416 (GRCm39)		probably null	Het
Slc2a10	T	C	2: 165,357,128 (GRCm39)	F263L	probably damaging	Het
Slc6a17	T	G	3: 107,378,703 (GRCm39)	M660L	probably benign	Het
Smarcc2	A	G	10: 128,323,638 (GRCm39)		probably null	Het
Srcap	A	G	7: 127,134,089 (GRCm39)	T937A	probably benign	Het
Ssh2	C	A	11: 77,340,259 (GRCm39)	D470E	possibly damaging	Het
St8sia1	A	T	6: 142,775,008 (GRCm39)		probably null	Het
Supt20	T	A	3: 54,606,022 (GRCm39)	I36K	possibly damaging	Het
Tor1aip2	T	A	1: 155,941,155 (GRCm39)	L487Q	probably damaging	Het
Zfp619	G	T	7: 39,187,322 (GRCm39)	K1117N	probably damaging	Het

Other mutations in Ighe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Ighe	APN	12	113,235,135 (GRCm39)	missense	unknown
IGL01315:Ighe	APN	12	113,234,972 (GRCm39)	missense	unknown
IGL01415:Ighe	APN	12	113,235,011 (GRCm39)	missense	unknown
Allegra	UTSW	12	113,234,994 (GRCm39)	nonsense	probably null
R0610:Ighe	UTSW	12	113,235,363 (GRCm39)	missense	unknown
R1540:Ighe	UTSW	12	113,235,066 (GRCm39)	missense	unknown
R1838:Ighe	UTSW	12	113,235,470 (GRCm39)	missense	unknown
R2010:Ighe	UTSW	12	113,235,108 (GRCm39)	missense	unknown
R3498:Ighe	UTSW	12	113,234,994 (GRCm39)	nonsense	probably null
R5230:Ighe	UTSW	12	113,235,006 (GRCm39)	missense	unknown
R5288:Ighe	UTSW	12	113,235,092 (GRCm39)	missense	probably benign	0.00
R7010:Ighe	UTSW	12	113,236,761 (GRCm39)	missense
R7146:Ighe	UTSW	12	113,235,975 (GRCm39)	missense
R7324:Ighe	UTSW	12	113,235,954 (GRCm39)	missense
R7443:Ighe	UTSW	12	113,235,785 (GRCm39)	nonsense	probably null
R7473:Ighe	UTSW	12	113,234,976 (GRCm39)	missense	probably damaging	1.00
R7493:Ighe	UTSW	12	113,235,023 (GRCm39)	missense
R7862:Ighe	UTSW	12	113,235,428 (GRCm39)	missense
R7873:Ighe	UTSW	12	113,234,942 (GRCm39)	missense
R7973:Ighe	UTSW	12	113,236,677 (GRCm39)	missense
R8038:Ighe	UTSW	12	113,233,053 (GRCm39)	missense
R8355:Ighe	UTSW	12	113,235,167 (GRCm39)	nonsense	probably null
R8483:Ighe	UTSW	12	113,235,808 (GRCm39)	missense
R8508:Ighe	UTSW	12	113,235,413 (GRCm39)	nonsense	probably null
R8844:Ighe	UTSW	12	113,235,006 (GRCm39)	missense
R9401:Ighe	UTSW	12	113,233,107 (GRCm39)	missense
R9635:Ighe	UTSW	12	113,235,899 (GRCm39)	missense
R9786:Ighe	UTSW	12	113,236,851 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TGCTCTGAGCTGCAACTTTC -3'
(R):5'- AAGAGCTGTGGACCAGTATTTGTG -3'

Sequencing Primer
(F):5'- CTGGGATGCTGATATCTCATCAACG -3'
(R):5'- GGACCAGTATTTGTGTCTTCATCAC -3'

Posted On

2018-07-24