Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Ighe'

273678

Institutional Source

Beutler Lab

Gene Symbol

Ighe

Ensembl Gene

ENSMUSG00000087642

Gene Name

Immunoglobulin heavy constant epsilon

Synonyms

Gm900, LOC380792

MMRRC Submission

040661-MU

Accession Numbers

Essential gene?

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

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113271174-113273248 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 113271374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 389 (Q389*)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000137336
AA Change: Q389*

SMART Domains

Protein: ENSMUSP00000118012
Gene: ENSMUSG00000087642
AA Change: Q389*

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

probably null
Transcript: ENSMUST00000223335
AA Change: Q389*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc1a4	A	T	11: 20,313,973	I248N	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	Het

Other mutations in Ighe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Ighe	APN	12	113271515	missense	unknown
IGL01315:Ighe	APN	12	113271352	missense	unknown
IGL01415:Ighe	APN	12	113271391	missense	unknown
Allegra	UTSW	12	113271374	nonsense	probably null
R0610:Ighe	UTSW	12	113271743	missense	unknown
R1540:Ighe	UTSW	12	113271446	missense	unknown
R1838:Ighe	UTSW	12	113271850	missense	unknown
R2010:Ighe	UTSW	12	113271488	missense	unknown
R5230:Ighe	UTSW	12	113271386	missense	unknown
R5288:Ighe	UTSW	12	113271472	missense	probably benign	0.00
R6713:Ighe	UTSW	12	113269288	unclassified	probably benign
R7010:Ighe	UTSW	12	113273141	missense
R7146:Ighe	UTSW	12	113272355	missense
R7324:Ighe	UTSW	12	113272334	missense
R7443:Ighe	UTSW	12	113272165	nonsense	probably null
R7473:Ighe	UTSW	12	113271356	missense	probably damaging	1.00
R7493:Ighe	UTSW	12	113271403	missense
R7862:Ighe	UTSW	12	113271808	missense
R7873:Ighe	UTSW	12	113271322	missense
R7973:Ighe	UTSW	12	113273057	missense
R8038:Ighe	UTSW	12	113269433	missense
R8355:Ighe	UTSW	12	113271547	nonsense	probably null
R8483:Ighe	UTSW	12	113272188	missense
R8508:Ighe	UTSW	12	113271793	nonsense	probably null
R8844:Ighe	UTSW	12	113271386	missense
R9401:Ighe	UTSW	12	113269487	missense
R9635:Ighe	UTSW	12	113272279	missense
R9786:Ighe	UTSW	12	113273231	missense

Predicted Primers

PCR Primer
(F):5'- GCTTCCTGGTGTTACAACAGTG -3'
(R):5'- GGTATATGTGTTCCCACCACCAG -3'

Sequencing Primer
(F):5'- TACAACAGTGAGCGGATGTCTGTC -3'
(R):5'- TGTTCCCACCACCAGAGGAG -3'

Posted On

2015-04-02