Mutagenetix > Incidental Mutation

Incidental Mutation 'R4473:Ighv1-49'

330466

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-49

Ensembl Gene

ENSMUSG00000076710

Gene Name

immunoglobulin heavy variable 1-49

Synonyms

Gm16830

MMRRC Submission

041730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115018843-115019136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115018959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 79 (Y79N)

Ref Sequence

ENSEMBL: ENSMUSP00000141739 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103519] [ENSMUST00000192724]

AlphaFold

A0A075B5V9

Predicted Effect

probably damaging
Transcript: ENSMUST00000103519
AA Change: Y60N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000100300
Gene: ENSMUSG00000076710
AA Change: Y60N

Domain	Start	End	E-Value	Type
IGv	17	98	5.3e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192724
AA Change: Y79N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141739
Gene: ENSMUSG00000076710
AA Change: Y79N

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	2.1e-28	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot7	C	A	4: 152,291,313 (GRCm39)	T93K	probably damaging	Het
Actg1	G	A	11: 120,239,085 (GRCm39)	R2C	probably benign	Het
Alb	T	C	5: 90,611,912 (GRCm39)	C114R	probably damaging	Het
Alpk1	T	C	3: 127,473,667 (GRCm39)	T779A	probably damaging	Het
Atp2a2	A	T	5: 122,595,327 (GRCm39)	S1008T	probably benign	Het
Corin	T	C	5: 72,496,400 (GRCm39)	S510G	probably damaging	Het
D630003M21Rik	G	A	2: 158,055,382 (GRCm39)	P585L	probably damaging	Het
Eddm3b	A	G	14: 51,354,236 (GRCm39)	T75A	probably benign	Het
Elavl2	T	C	4: 91,149,246 (GRCm39)		probably null	Het
Erc1	G	T	6: 119,825,417 (GRCm39)		probably null	Het
Fancf	A	G	7: 51,511,948 (GRCm39)	C19R	probably benign	Het
Fastkd2	T	C	1: 63,770,833 (GRCm39)	L63P	probably damaging	Het
Fmo1	A	G	1: 162,677,732 (GRCm39)	V128A	possibly damaging	Het
Ifnar1	T	C	16: 91,292,058 (GRCm39)	V133A	probably damaging	Het
Klhl23	A	G	2: 69,654,151 (GRCm39)	E7G	possibly damaging	Het
Mthfd2	A	G	6: 83,287,517 (GRCm39)		probably benign	Het
Or5d35	T	A	2: 87,855,464 (GRCm39)	Y133N	probably damaging	Het
Parn	A	G	16: 13,482,549 (GRCm39)	S100P	probably benign	Het
Podnl1	A	T	8: 84,858,614 (GRCm39)	I505F	possibly damaging	Het
Ppp6r3	G	T	19: 3,561,978 (GRCm39)	Q228K	probably damaging	Het
Pramel38	A	G	5: 94,366,029 (GRCm39)	N49S	probably benign	Het
Rab22a	C	T	2: 173,537,056 (GRCm39)	T85M	probably damaging	Het
Siah1b	G	A	X: 162,854,688 (GRCm39)	P131S	probably damaging	Het
Skor2	C	T	18: 76,947,156 (GRCm39)	P293S	unknown	Het
Sox18	T	C	2: 181,312,669 (GRCm39)	K154R	probably damaging	Het
Tfpi	A	T	2: 84,288,426 (GRCm39)	L10Q	probably null	Het
Trim66	A	T	7: 109,081,202 (GRCm39)	I239N	probably damaging	Het
Ttll1	T	A	15: 83,376,810 (GRCm39)	K304N	probably damaging	Het
Vmn1r5	G	A	6: 56,962,633 (GRCm39)	V103I	probably benign	Het
Vnn1	T	C	10: 23,770,789 (GRCm39)	W6R	probably benign	Het
Wdr35	A	G	12: 9,065,995 (GRCm39)	Y651C	probably benign	Het

Other mutations in Ighv1-49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Ighv1-49	APN	12	115,019,076 (GRCm39)	missense	possibly damaging	0.89
R4945:Ighv1-49	UTSW	12	115,019,028 (GRCm39)	missense	possibly damaging	0.71
R5436:Ighv1-49	UTSW	12	115,019,081 (GRCm39)	missense	probably damaging	1.00
R5662:Ighv1-49	UTSW	12	115,019,027 (GRCm39)	missense	probably damaging	1.00
R8126:Ighv1-49	UTSW	12	115,019,230 (GRCm39)	critical splice donor site	probably benign
R8318:Ighv1-49	UTSW	12	115,019,051 (GRCm39)	missense	probably damaging	1.00
R9226:Ighv1-49	UTSW	12	115,019,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGGGAATGCAGCTTGATG -3'
(R):5'- ATGTCACTGATATACACTCTGCC -3'

Sequencing Primer
(F):5'- GCACAGTAATAGACCGCA -3'
(R):5'- AGGAGTCCACTCACAGCGTG -3'

Posted On

2015-07-21