Mutagenetix > Incidental Mutation

Incidental Mutation 'R8759:Ighg1'

671812

Institutional Source

Beutler Lab

Gene Symbol

Ighg1

Ensembl Gene

ENSMUSG00000076614

Gene Name

immunoglobulin heavy constant gamma 1 (G1m marker)

Synonyms

IgG1, Igh-4

MMRRC Submission

068718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113290161-113294143 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 113292657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 304 (L304*)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000103420
AA Change: L304*

SMART Domains

Protein: ENSMUSP00000100216
Gene: ENSMUSG00000076614
AA Change: L304*

Domain	Start	End	E-Value	Type
IGc1	22	92	3.64e-15	SMART
Pfam:C1-set	124	210	2e-14	PFAM
IGc1	239	312	4.57e-39	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000194304
AA Change: L304*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutant mice are viable and fertile but show impaired primary and secondary Igh-4 immune responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 125,365,916 (GRCm39)	T276A	probably benign	Het
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adamts18	G	A	8: 114,433,624 (GRCm39)	P1037S	probably damaging	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Aqp4	T	G	18: 15,533,048 (GRCm39)	H15P	probably benign	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cdh15	A	G	8: 123,587,628 (GRCm39)	D184G	probably damaging	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,784,129 (GRCm39)	H443R	probably damaging	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Cog6	A	G	3: 52,897,465 (GRCm39)	L536P	probably damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Ddx50	T	C	10: 62,452,021 (GRCm39)	D734G	unknown	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Drg1	T	C	11: 3,204,633 (GRCm39)	S198G	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm17027	T	C	14: 41,981,251 (GRCm39)	I202V		Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Lyz3	T	A	10: 117,070,340 (GRCm39)	I146F	probably damaging	Het
Mast2	A	T	4: 116,292,757 (GRCm39)	F71Y	possibly damaging	Het
Mkrn1	C	A	6: 39,376,344 (GRCm39)	E421*	probably null	Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nrg1	C	A	8: 32,308,103 (GRCm39)	A686S	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Plxna4	T	A	6: 32,169,276 (GRCm39)	D1307V	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptch2	T	C	4: 116,967,630 (GRCm39)	L766P	probably damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Shprh	T	G	10: 11,032,908 (GRCm39)	V298G	possibly damaging	Het
Slc37a4	C	T	9: 44,313,632 (GRCm39)	T386I	probably benign	Het
Slc4a3	T	C	1: 75,531,282 (GRCm39)	I825T	probably damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Tigar	A	T	6: 127,068,220 (GRCm39)	I66K	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Tnc	G	A	4: 63,924,501 (GRCm39)	R1066C	possibly damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Vmn1r13	A	G	6: 57,187,524 (GRCm39)	T228A	probably damaging	Het
Xab2	T	C	8: 3,661,672 (GRCm39)	T594A	probably benign	Het
Zc3h18	A	G	8: 123,138,124 (GRCm39)	E687G	unknown	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het

Other mutations in Ighg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Ighg1	APN	12	113,292,804 (GRCm39)	missense	unknown
IGL02637:Ighg1	APN	12	113,293,132 (GRCm39)	missense	unknown
Gee	UTSW	12	113,294,126 (GRCm39)	missense	unknown
whiz	UTSW	12	113,294,066 (GRCm39)	missense
R3436:Ighg1	UTSW	12	113,293,180 (GRCm39)	missense	probably damaging	0.97
R4012:Ighg1	UTSW	12	113,293,270 (GRCm39)	missense	probably damaging	1.00
R4741:Ighg1	UTSW	12	113,290,178 (GRCm39)	unclassified	probably benign
R4883:Ighg1	UTSW	12	113,291,138 (GRCm39)	unclassified	probably benign
R5450:Ighg1	UTSW	12	113,294,126 (GRCm39)	missense	unknown
R5642:Ighg1	UTSW	12	113,292,654 (GRCm39)	missense	probably damaging	0.97
R7219:Ighg1	UTSW	12	113,290,216 (GRCm39)	missense
R7243:Ighg1	UTSW	12	113,294,066 (GRCm39)	missense
R7313:Ighg1	UTSW	12	113,293,078 (GRCm39)	missense
R7534:Ighg1	UTSW	12	113,293,349 (GRCm39)	missense
R7943:Ighg1	UTSW	12	113,293,957 (GRCm39)	missense
R8029:Ighg1	UTSW	12	113,292,765 (GRCm39)	missense
R8757:Ighg1	UTSW	12	113,292,657 (GRCm39)	nonsense	probably null
R9758:Ighg1	UTSW	12	113,293,252 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGGAGACCCCTCATTCCATG -3'
(R):5'- GTCTGACCTGCATGATAACAAAC -3'

Sequencing Primer
(F):5'- TGACCTAGCTAGACTCTACATCTCAG -3'
(R):5'- GCATGATAACAAACTTCTTCCCTG -3'

Posted On

2021-04-30