Mutagenetix > Incidental Mutation

Incidental Mutation 'R2896:Ighv1-67'

477136

Institutional Source

Beutler Lab

Gene Symbol

Ighv1-67

Ensembl Gene

ENSMUSG00000095863

Gene Name

immunoglobulin heavy variable V1-67

Synonyms

MMRRC Submission

040484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R2896 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115567560-115567853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115567595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 106 (T106S)

Ref Sequence

ENSEMBL: ENSMUSP00000143248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103538] [ENSMUST00000198646]

AlphaFold

A0A075B5X6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103538
AA Change: T87S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100319
Gene: ENSMUSG00000095863
AA Change: T87S

Domain	Start	End	E-Value	Type
IGv	17	98	1.85e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000198646
AA Change: T106S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143248
Gene: ENSMUSG00000095863
AA Change: T106S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	7.5e-28	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd14b	C	T	9: 106,327,313 (GRCm39)	R32C	probably benign	Het
Bpifb4	T	G	2: 153,796,357 (GRCm39)		probably benign	Het
Cachd1	T	A	4: 100,828,100 (GRCm39)	L616Q	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Crebbp	A	G	16: 3,956,680 (GRCm39)	L381P	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Esp6	T	A	17: 40,873,834 (GRCm39)	M7K	possibly damaging	Het
Fam83d	G	A	2: 158,627,898 (GRCm39)	R529Q	probably damaging	Het
Gm26526	T	G	7: 39,238,437 (GRCm39)		noncoding transcript	Het
Gm8374	T	A	14: 18,537,084 (GRCm39)	R47*	probably null	Het
Gss	A	G	2: 155,406,749 (GRCm39)	L342P	probably damaging	Het
Kif21b	T	C	1: 136,081,955 (GRCm39)	Y668H	possibly damaging	Het
Lcmt1	A	G	7: 123,020,809 (GRCm39)	R245G	possibly damaging	Het
Lpar6	A	G	14: 73,476,716 (GRCm39)	K226E	probably damaging	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,245,702 (GRCm39)	D100E	possibly damaging	Het
Phkg1	C	A	5: 129,893,471 (GRCm39)	K326N	possibly damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Prss1	G	A	6: 41,440,639 (GRCm39)	W238*	probably null	Het
Rdh10	A	T	1: 16,176,329 (GRCm39)		probably null	Het
Ror1	T	C	4: 99,953,477 (GRCm39)	L21P	unknown	Het
Skint8	A	G	4: 111,807,333 (GRCm39)	I340V	probably null	Het
Spata18	T	C	5: 73,815,145 (GRCm39)	S85P	probably damaging	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Ttll3	G	T	6: 113,369,683 (GRCm39)	A76S	probably benign	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	possibly damaging	Het
Ubn1	A	G	16: 4,873,083 (GRCm39)	H35R	possibly damaging	Het
Ubr4	A	G	4: 139,182,955 (GRCm39)		probably null	Het
Zfp456	T	C	13: 67,515,416 (GRCm39)	R97G	possibly damaging	Het

Other mutations in Ighv1-67

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Ighv1-67	APN	12	115,567,687 (GRCm39)	missense	probably benign	0.39
IGL02688:Ighv1-67	APN	12	115,567,643 (GRCm39)	missense	probably damaging	1.00
R6766:Ighv1-67	UTSW	12	115,567,654 (GRCm39)	missense	possibly damaging	0.76
R7220:Ighv1-67	UTSW	12	115,567,666 (GRCm39)	missense	probably benign	0.45
R8335:Ighv1-67	UTSW	12	115,567,744 (GRCm39)	missense	probably damaging	0.97
R8680:Ighv1-67	UTSW	12	115,567,861 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-05-15