Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02555:Ighv5-15'

298468

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ighv5-15

Ensembl Gene

ENSMUSG00000094134

Gene Name

immunoglobulin heavy variable 5-15

Synonyms

Gm16888

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

113826646-113827129 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113827115 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 3 (F3L)

Ref Sequence

ENSEMBL: ENSMUSP00000141493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103457] [ENSMUST00000192877]

Predicted Effect

probably benign
Transcript: ENSMUST00000103457
AA Change: F3L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100238
Gene: ENSMUSG00000094134
AA Change: F3L

Domain	Start	End	E-Value	Type
IGv	35	116	2.17e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192877
AA Change: F3L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000141493
Gene: ENSMUSG00000094134
AA Change: F3L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	9e-34	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195115

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109I03Rik	G	T	15: 74,881,608		probably benign	Het
Actr1b	G	A	1: 36,701,747	R199C	probably damaging	Het
Adam9	T	C	8: 24,966,736	N661D	probably damaging	Het
Amy1	C	T	3: 113,564,892	E164K	probably benign	Het
Arid5b	A	C	10: 68,101,904	D221E	probably benign	Het
B3galt1	G	T	2: 68,118,561	V207F	probably benign	Het
Begain	A	G	12: 109,034,189	S219P	probably damaging	Het
Clip1	A	G	5: 123,621,794		probably null	Het
Cps1	A	G	1: 67,214,021	K1224R	probably benign	Het
Dnm1	A	G	2: 32,328,038	Y449H	probably damaging	Het
Epas1	A	T	17: 86,829,064	M755L	probably benign	Het
F13b	T	C	1: 139,517,186	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,126,851		probably null	Het
Gm5346	A	T	8: 43,625,268	C640S	probably damaging	Het
Inpp4a	A	G	1: 37,379,968	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,813,817	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,189,881	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,141,985	H369Q	probably benign	Het
Olfr1023	G	A	2: 85,887,398	M199I	probably benign	Het
Olfr1249	G	A	2: 89,630,203	R232C	probably damaging	Het
Olfr1294	A	G	2: 111,537,917	V124A	probably damaging	Het
Olfr24	T	A	9: 18,755,473	H54L	probably benign	Het
Plxdc2	A	G	2: 16,729,341	I417M	probably benign	Het
Polr1a	G	A	6: 71,920,457	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,530,953	F134L	probably damaging	Het
Prox2	C	T	12: 85,095,260	W56*	probably null	Het
Scaf4	C	T	16: 90,250,305	A395T	unknown	Het
Sh3tc2	G	T	18: 61,990,237	A690S	probably damaging	Het
Slc34a1	T	C	13: 55,401,168	S144P	possibly damaging	Het
Slc6a6	C	T	6: 91,748,330		probably benign	Het
Tubgcp3	A	T	8: 12,639,595	M557K	probably benign	Het
Vmn2r103	A	T	17: 19,811,611	D549V	probably damaging	Het
Washc2	T	A	6: 116,209,100	N90K	probably damaging	Het

Posted On

2015-04-16