Mutagenetix > Incidental Mutation

Incidental Mutation 'R8986:Ighv1-58'

684048

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-58

Ensembl Gene

ENSMUSG00000095889

Gene Name

immunoglobulin heavy variable 1-58

Synonyms

Gm16633

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R8986 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115275786-115276217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115275835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 101 (Q101R)

Ref Sequence

ENSEMBL: ENSMUSP00000100310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103529]

AlphaFold

A0A075B5W9

Predicted Effect

probably benign
Transcript: ENSMUST00000103529
AA Change: Q101R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100310
Gene: ENSMUSG00000095889
AA Change: Q101R

Domain	Start	End	E-Value	Type
IGv	36	117	1.29e-29	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adamts10	C	T	17: 33,762,668 (GRCm39)	A549V	probably benign	Het
Akap13	T	C	7: 75,259,074 (GRCm39)	M566T	probably benign	Het
Alb	A	G	5: 90,615,225 (GRCm39)	T246A	probably benign	Het
Cyfip1	C	T	7: 55,558,140 (GRCm39)	R806C	probably damaging	Het
Cyp11a1	T	A	9: 57,925,644 (GRCm39)	I195N	probably damaging	Het
Dclre1a	C	G	19: 56,526,826 (GRCm39)	Q863H		Het
Ddx19a	A	G	8: 111,705,188 (GRCm39)	V311A	probably benign	Het
Dnajc13	A	T	9: 104,057,330 (GRCm39)	F1557I	probably damaging	Het
Eml6	T	A	11: 29,755,181 (GRCm39)	T865S	possibly damaging	Het
Esrrg	T	A	1: 187,943,104 (GRCm39)	I382K	possibly damaging	Het
Fam149a	G	A	8: 45,811,837 (GRCm39)	T22M		Het
Fam227b	A	T	2: 125,958,019 (GRCm39)	Y249N	probably damaging	Het
Fanci	G	A	7: 79,095,472 (GRCm39)	V1217I	probably benign	Het
Fermt2	A	G	14: 45,742,023 (GRCm39)	Y108H	probably benign	Het
Gkn1	A	T	6: 87,325,160 (GRCm39)	V83E	probably damaging	Het
Glmp	T	A	3: 88,233,002 (GRCm39)	S47T	probably benign	Het
Greb1	T	C	12: 16,734,457 (GRCm39)	H1511R	probably damaging	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Htra3	A	T	5: 35,836,372 (GRCm39)	C107S	probably damaging	Het
Ighv6-5	A	T	12: 114,380,382 (GRCm39)	L45*	probably null	Het
Igtp	T	A	11: 58,096,947 (GRCm39)		probably null	Het
Il1rap	T	C	16: 26,533,696 (GRCm39)	S531P	probably damaging	Het
Kcnd3	A	T	3: 105,367,039 (GRCm39)	H303L	probably damaging	Het
Kcnj3	G	T	2: 55,485,039 (GRCm39)	S379I	probably benign	Het
Lrrc36	T	C	8: 106,176,093 (GRCm39)	S156P	possibly damaging	Het
Mical3	G	T	6: 120,991,822 (GRCm39)	D250E		Het
Msh3	T	C	13: 92,483,334 (GRCm39)	T270A	probably damaging	Het
Myrfl	A	G	10: 116,658,746 (GRCm39)	W404R	probably damaging	Het
Nol7	T	C	13: 43,554,985 (GRCm39)	F206S	probably damaging	Het
Obi1	T	C	14: 104,745,418 (GRCm39)	H86R	probably damaging	Het
Or12e13	A	T	2: 87,663,655 (GRCm39)	I91F	possibly damaging	Het
Or2ag1	A	G	7: 106,473,050 (GRCm39)	I134T	probably benign	Het
Paox	A	G	7: 139,706,503 (GRCm39)	E141G	probably benign	Het
Plod1	A	T	4: 147,997,734 (GRCm39)	H658Q	probably damaging	Het
Pou4f1	T	C	14: 104,704,087 (GRCm39)	D115G	probably damaging	Het
Ppp1r26	G	T	2: 28,342,802 (GRCm39)	E811*	probably null	Het
Qsox1	C	T	1: 155,666,829 (GRCm39)	R220K	probably damaging	Het
Rabgap1l	C	T	1: 160,085,105 (GRCm39)	V781I	probably damaging	Het
Rad50	T	C	11: 53,541,354 (GRCm39)	D1294G	possibly damaging	Het
Rbp7	C	T	4: 149,537,371 (GRCm39)	V97I	probably benign	Het
Rrad	C	T	8: 105,355,222 (GRCm39)	R262Q	possibly damaging	Het
Sdcbp2	T	C	2: 151,429,150 (GRCm39)	V183A	probably benign	Het
Slfn2	C	G	11: 82,960,427 (GRCm39)	I135M	possibly damaging	Het
Sntg1	T	A	1: 8,484,491 (GRCm39)	D443V	possibly damaging	Het
Tas2r105	G	A	6: 131,663,913 (GRCm39)	Q172*	probably null	Het
Tfdp2	A	G	9: 96,172,637 (GRCm39)	R44G	probably damaging	Het
Thbd	A	T	2: 148,248,480 (GRCm39)	C463S	probably damaging	Het
Tnxb	T	C	17: 34,897,646 (GRCm39)	V807A	possibly damaging	Het
Trim68	T	A	7: 102,327,808 (GRCm39)	K382*	probably null	Het
Vmn2r110	T	A	17: 20,803,823 (GRCm39)	I251F	probably damaging	Het
Vmn2r61	A	T	7: 41,915,325 (GRCm39)	R91*	probably null	Het
Vmn2r-ps117	G	A	17: 19,044,943 (GRCm39)	W453*	probably null	Het
Zc3h18	T	C	8: 123,134,193 (GRCm39)	V553A	unknown	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp791	A	G	8: 85,837,327 (GRCm39)	F179S	probably benign	Het
Zyg11a	A	T	4: 108,041,628 (GRCm39)		probably null	Het

Other mutations in Ighv1-58

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Ighv1-58	APN	12	115,275,897 (GRCm39)	missense	possibly damaging	0.89
R0026:Ighv1-58	UTSW	12	115,275,907 (GRCm39)	missense	probably benign	0.02
R0098:Ighv1-58	UTSW	12	115,275,919 (GRCm39)	missense	probably benign	0.03
R4012:Ighv1-58	UTSW	12	115,275,930 (GRCm39)	nonsense	probably null
R7018:Ighv1-58	UTSW	12	115,275,985 (GRCm39)	missense	probably damaging	1.00
R7301:Ighv1-58	UTSW	12	115,275,915 (GRCm39)	missense	probably benign	0.11
R7821:Ighv1-58	UTSW	12	115,275,796 (GRCm39)	missense	possibly damaging	0.88
R9674:Ighv1-58	UTSW	12	115,275,847 (GRCm39)	missense	probably damaging	0.99
Z1177:Ighv1-58	UTSW	12	115,275,944 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- ACATGTCAACGGAGGTGGTC -3'
(R):5'- ATGTCCTGCAAGACTTCTGG -3'

Sequencing Primer
(F):5'- CCCATAGATAGACCTTTAGAAAGCTG -3'
(R):5'- GTCCTGCAAGACTTCTGGATATAC -3'

Posted On

2021-10-11