Mutagenetix > Incidental Mutation

Incidental Mutation 'R9446:Ighv1-9'

713956

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-9

Ensembl Gene

ENSMUSG00000094694

Gene Name

immunoglobulin heavy variable V1-9

Synonyms

Gm16697

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R9446 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114547189-114547482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114547388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 51 (Y51C)

Ref Sequence

ENSEMBL: ENSMUSP00000141381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103498] [ENSMUST00000193893]

AlphaFold

A0A075B5T9

Predicted Effect

probably benign
Transcript: ENSMUST00000103498
AA Change: Y50C

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100279
Gene: ENSMUSG00000094694
AA Change: Y50C

Domain	Start	End	E-Value	Type
IGv	35	116	1.21e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193893
AA Change: Y51C

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141381
Gene: ENSMUSG00000094694
AA Change: Y51C

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	4.9e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	T	G	2: 120,976,530 (GRCm39)	I90S	probably null	Het
Adck2	G	T	6: 39,551,221 (GRCm39)		probably benign	Het
Adgrf3	G	T	5: 30,401,957 (GRCm39)	D690E	probably benign	Het
Aff3	C	T	1: 38,574,337 (GRCm39)	G175S	probably benign	Het
Atf7	T	C	15: 102,459,923 (GRCm39)	H159R	probably damaging	Het
BB014433	GGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	GGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGGGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCAGGTTGGGGGCTCTGCACACAGCTTTGGAGGTGTACACACCGGGGTTGGGGCCTCTGCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG	8: 15,091,810 (GRCm39)		probably benign	Het
Birc6	A	G	17: 74,925,491 (GRCm39)	K2241R	probably damaging	Het
Cacna1s	A	G	1: 136,045,362 (GRCm39)	E1670G	probably benign	Het
Clca4b	C	T	3: 144,638,134 (GRCm39)	A43T	probably benign	Het
Clock	T	A	5: 76,396,288 (GRCm39)	I154L	probably benign	Het
Dnah10	A	T	5: 124,823,677 (GRCm39)	D566V	probably damaging	Het
Eml1	T	C	12: 108,481,465 (GRCm39)	W443R	probably damaging	Het
Ghitm	A	G	14: 36,853,606 (GRCm39)	I78T	possibly damaging	Het
Gm4181	A	T	14: 51,873,062 (GRCm39)	M1K	probably null	Het
Gm9195	T	C	14: 72,717,957 (GRCm39)	Y187C	probably damaging	Het
Htt	A	G	5: 34,919,272 (GRCm39)	M8V	probably benign	Het
Kif13b	G	A	14: 64,984,470 (GRCm39)	E636K	probably damaging	Het
Mamdc4	T	A	2: 25,453,645 (GRCm39)	M1179L	probably benign	Het
Map3k4	G	A	17: 12,451,375 (GRCm39)	A1506V	probably damaging	Het
Mbtd1	T	C	11: 93,834,508 (GRCm39)	S622P	unknown	Het
Med13l	T	A	5: 118,876,567 (GRCm39)	D914E	probably benign	Het
Mettl9	T	A	7: 120,675,531 (GRCm39)	D310E	possibly damaging	Het
Myh13	T	G	11: 67,255,325 (GRCm39)	V1565G	probably benign	Het
Nrf1	A	G	6: 30,090,019 (GRCm39)	T33A	probably damaging	Het
Oas1d	A	G	5: 121,054,947 (GRCm39)	K173R	probably benign	Het
Or12e10	A	T	2: 87,640,199 (GRCm39)	M12L	probably benign	Het
Or1e34	T	A	11: 73,778,530 (GRCm39)	T223S	probably benign	Het
Or4k6	A	G	14: 50,475,974 (GRCm39)	Y123H	probably damaging	Het
Or8g54	A	T	9: 39,707,342 (GRCm39)	S224C	probably damaging	Het
Pde6a	T	A	18: 61,419,067 (GRCm39)	D814E	probably benign	Het
Pilrb2	T	C	5: 137,869,429 (GRCm39)	D57G	possibly damaging	Het
Psg21	T	A	7: 18,388,865 (GRCm39)	T76S	probably benign	Het
Ralgapa1	A	G	12: 55,754,808 (GRCm39)	V1161A	probably damaging	Het
Rtl1	C	G	12: 109,556,604 (GRCm39)	*1745S	probably null	Het
Samd8	T	C	14: 21,833,769 (GRCm39)	C296R		Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfmbt1	T	C	14: 30,506,697 (GRCm39)	I247T	possibly damaging	Het
Smarca4	G	A	9: 21,547,155 (GRCm39)	A227T	unknown	Het
Trmt6	G	A	2: 132,650,774 (GRCm39)	S278L	probably benign	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Trpm7	T	A	2: 126,672,185 (GRCm39)		probably null	Het
Wnt10a	C	A	1: 74,842,728 (GRCm39)	F401L	possibly damaging	Het
Zfp970	A	T	2: 177,167,064 (GRCm39)	K213*	probably null	Het

Other mutations in Ighv1-9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0054:Ighv1-9	UTSW	12	114,547,602 (GRCm39)	missense	probably benign	0.00
R4426:Ighv1-9	UTSW	12	114,547,416 (GRCm39)	nonsense	probably null
R4593:Ighv1-9	UTSW	12	114,547,224 (GRCm39)	missense	probably benign	0.12
R5045:Ighv1-9	UTSW	12	114,547,440 (GRCm39)	missense	probably damaging	1.00
R5070:Ighv1-9	UTSW	12	114,547,377 (GRCm39)	missense	probably damaging	1.00
R6435:Ighv1-9	UTSW	12	114,547,206 (GRCm39)	missense	probably benign	0.18
R6941:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R8140:Ighv1-9	UTSW	12	114,547,361 (GRCm39)	missense	probably damaging	1.00
R8346:Ighv1-9	UTSW	12	114,547,448 (GRCm39)	missense	probably benign
R9209:Ighv1-9	UTSW	12	114,547,620 (GRCm39)	start codon destroyed	probably null	1.00
Z1176:Ighv1-9	UTSW	12	114,547,454 (GRCm39)	missense	probably benign	0.44
Z1177:Ighv1-9	UTSW	12	114,547,319 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGTTACAACACTGTGTCTTGC -3'
(R):5'- AGGGGCTCACCATTTTCAAATC -3'

Sequencing Primer
(F):5'- AATAGATGGCAGAGTCCTCAGTTGTC -3'
(R):5'- GGGGCTCACCATTTTCAAATCTGAAG -3'

Posted On

2022-06-15