Mutagenetix > Incidental Mutation

Incidental Mutation 'R7010:Ighe'

544975

Institutional Source

Beutler Lab

Gene Symbol

Ighe

Ensembl Gene

ENSMUSG00000087642

Gene Name

Immunoglobulin heavy constant epsilon

Synonyms

Gm900, LOC380792

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R7010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113232883-113236868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113236761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642
AA Change: T36A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AL592187.3	A	T	15: 77,486,797 (GRCm39)	Y58F	probably benign	Het
Ano10	T	C	9: 122,082,190 (GRCm39)	T494A	probably damaging	Het
Asah2	A	T	19: 32,031,954 (GRCm39)	F72I	probably benign	Het
Atat1	T	C	17: 36,219,522 (GRCm39)	D114G	probably damaging	Het
Atp6v1e2	C	T	17: 87,251,773 (GRCm39)	M208I	probably benign	Het
Bicd1	A	G	6: 149,396,113 (GRCm39)	Y161C	probably damaging	Het
Camk2g	T	C	14: 20,791,512 (GRCm39)	S410G	probably benign	Het
Car2	C	T	3: 14,965,113 (GRCm39)	P249L	possibly damaging	Het
Cdh23	T	G	10: 60,366,770 (GRCm39)	I237L	probably benign	Het
Dlat	T	A	9: 50,569,274 (GRCm39)	K176N	probably damaging	Het
Dnajc12	T	A	10: 63,233,059 (GRCm39)	C67S	probably benign	Het
Fat1	G	T	8: 45,406,386 (GRCm39)	E1046*	probably null	Het
Gmip	G	A	8: 70,264,050 (GRCm39)	A137T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grk6	A	G	13: 55,598,113 (GRCm39)	I62V	possibly damaging	Het
Hook1	G	T	4: 95,903,048 (GRCm39)	L512F	probably damaging	Het
Il17rc	A	G	6: 113,456,249 (GRCm39)	N338S	possibly damaging	Het
Itgb6	T	C	2: 60,480,322 (GRCm39)	Y338C	probably damaging	Het
Kcnd2	A	G	6: 21,216,707 (GRCm39)	Y137C	probably damaging	Het
L3mbtl3	T	A	10: 26,158,759 (GRCm39)		probably null	Het
Lcn3	T	C	2: 25,656,068 (GRCm39)	F41S	probably damaging	Het
Map3k8	T	C	18: 4,334,060 (GRCm39)	H344R	probably damaging	Het
Marf1	A	T	16: 13,954,865 (GRCm39)	I884N	probably damaging	Het
Nalcn	G	A	14: 123,530,877 (GRCm39)	T1387I	probably damaging	Het
Nrros	T	C	16: 31,962,398 (GRCm39)	T540A	probably damaging	Het
Or5p63	A	T	7: 107,811,349 (GRCm39)	I129N	probably damaging	Het
Pank2	T	C	2: 131,122,293 (GRCm39)	Y273H	probably benign	Het
Pgrmc2	A	G	3: 41,037,068 (GRCm39)	V121A	probably damaging	Het
Phldb2	C	T	16: 45,571,868 (GRCm39)	V1175M	probably damaging	Het
Prss3b	A	C	6: 41,009,247 (GRCm39)	S196A	probably benign	Het
Ranbp2	A	G	10: 58,290,393 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Syt7	A	G	19: 10,395,354 (GRCm39)	T55A	probably benign	Het
Tfcp2l1	T	C	1: 118,581,457 (GRCm39)	S137P	probably damaging	Het
Tom1	T	A	8: 75,778,603 (GRCm39)	V140D	probably damaging	Het
Ttc23l	T	G	15: 10,515,224 (GRCm39)	I385L	probably damaging	Het
Vmn1r122	A	G	7: 20,867,896 (GRCm39)	V53A	probably damaging	Het
Vmn2r1	C	T	3: 64,012,146 (GRCm39)	T669I	probably benign	Het
Vmn2r86	A	G	10: 130,291,726 (GRCm39)	L13P	probably benign	Het
Zfp958	T	C	8: 4,678,377 (GRCm39)	I134T	probably benign	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
R6713:Ighe	UTSW	12	113,232,908 (GRCm39)	unclassified	probably benign
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'- GCCCATCCCTACTTACCTAGGATAG -3'
(R):5'- TCTCCTAGACTGGAATGGGGTC -3'

Sequencing Primer
(F):5'- AGTCCTACTTTCGTTGAATGATGGAG -3'
(R):5'- GTCACAGCTGCCCTTAATCAG -3'

Posted On

2019-05-13