Mutagenetix > Incidental Mutation

Incidental Mutation 'R4729:Igkv12-38'

358674

Institutional Source

Beutler Lab

Gene Symbol

Igkv12-38

Ensembl Gene

ENSMUSG00000076570

Gene Name

immunoglobulin kappa chain variable 12-38

Synonyms

Gm16690

MMRRC Submission

041603-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4729 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69943186-69943648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69943384 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 50 (Y50F)

Ref Sequence

ENSEMBL: ENSMUSP00000142787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103371] [ENSMUST00000198880]

AlphaFold

A0A075B5M8

Predicted Effect

probably benign
Transcript: ENSMUST00000103371
AA Change: Y49F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000100172
Gene: ENSMUSG00000076570
AA Change: Y49F

Domain	Start	End	E-Value	Type
low complexity region	7	15	N/A	INTRINSIC
IGv	37	109	2.29e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198880
AA Change: Y50F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142787
Gene: ENSMUSG00000076570
AA Change: Y50F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGv	38	110	9.1e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,849,323	L220H	unknown	Het
Amt	T	A	9: 108,300,652	L272Q	probably damaging	Het
Ank2	G	C	3: 126,976,896	Y894*	probably null	Het
Ankzf1	T	A	1: 75,194,264	F105I	probably damaging	Het
Aox4	C	A	1: 58,259,077	Y1067*	probably null	Het
BC034090	T	A	1: 155,225,090	Q476L	probably damaging	Het
Bhmt	G	T	13: 93,627,363	R57S	probably damaging	Het
Cacna1c	A	T	6: 118,656,175	F964L	probably damaging	Het
Celsr3	A	C	9: 108,847,652	S396R	probably benign	Het
Cpne4	C	A	9: 104,922,556	Q191K	probably damaging	Het
Csnk1g2	T	C	10: 80,639,204	Y352H	probably benign	Het
D630003M21Rik	A	G	2: 158,216,703	S426P	probably damaging	Het
Dido1	G	T	2: 180,687,650	N326K	probably benign	Het
E2f2	T	A	4: 136,184,449	I257N	probably damaging	Het
Elfn1	T	G	5: 139,973,658	F806V	probably damaging	Het
Eml6	T	A	11: 29,833,204	Y559F	probably damaging	Het
Erich6	A	G	3: 58,636,059		probably null	Het
Fam45a	T	A	19: 60,834,871	F315I	probably benign	Het
Fam78a	T	C	2: 32,082,605	N101S	probably damaging	Het
Fam83h	A	G	15: 76,002,336	S1051P	probably benign	Het
Galns	C	T	8: 122,603,456	G112D	probably damaging	Het
Gm7075	A	T	10: 63,421,465	V92E	probably damaging	Het
Gm9923	A	G	10: 72,309,694	K125R	probably damaging	Het
Hectd3	G	A	4: 116,997,218	V326M	probably damaging	Het
Iars2	A	G	1: 185,316,051	S495P	possibly damaging	Het
Ice1	T	C	13: 70,606,384	R528G	probably damaging	Het
Inpp5j	T	C	11: 3,495,025	S883G	probably damaging	Het
Irf8	T	C	8: 120,753,439	S139P	probably damaging	Het
Itpr2	A	G	6: 146,373,173	F837S	probably damaging	Het
Kcnq4	G	T	4: 120,713,074	D357E	possibly damaging	Het
Klhl1	A	G	14: 96,280,148	L364P	probably damaging	Het
Krt7	A	G	15: 101,420,558	I309V	probably benign	Het
Krt76	G	T	15: 101,889,081	A281D	probably damaging	Het
Lancl2	T	C	6: 57,737,712	F430L	probably damaging	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc26	A	T	2: 25,290,064	T26S	probably benign	Het
Lrrk1	T	A	7: 66,262,293	M1840L	probably benign	Het
Lyst	G	A	13: 13,637,901	C966Y	probably damaging	Het
Mad1l1	T	A	5: 140,261,511	S354C	possibly damaging	Het
Mbtps1	C	T	8: 119,525,420	G577D	probably damaging	Het
Mycbp2	C	T	14: 103,188,591	R2366H	probably damaging	Het
Myo18a	T	G	11: 77,777,685		probably null	Het
Naip5	G	A	13: 100,222,131	R866C	possibly damaging	Het
Nav2	T	A	7: 49,452,819	V455E	probably benign	Het
Neb	A	G	2: 52,263,662	I2417T	possibly damaging	Het
Nme5	C	T	18: 34,569,837	A133T	probably benign	Het
Nradd	T	C	9: 110,621,911	D51G	possibly damaging	Het
Pard3b	A	G	1: 62,211,684	R591G	probably damaging	Het
Pcbp4	T	C	9: 106,460,730	F73S	probably damaging	Het
Pcdhb11	C	T	18: 37,422,366	Q250*	probably null	Het
Pde1c	T	A	6: 56,072,209	K766N	probably damaging	Het
Phf21b	G	A	15: 84,854,741	Q40*	probably null	Het
Prr14	A	G	7: 127,474,696	D244G	probably benign	Het
Rab11fip5	C	T	6: 85,374,267	A88T	probably damaging	Het
Rad54l2	A	T	9: 106,716,118	S428T	probably benign	Het
Rdh9	A	G	10: 127,776,752	I90V	probably benign	Het
Rhag	G	T	17: 40,828,401	G76C	probably damaging	Het
Riok3	T	A	18: 12,128,927	V6E	possibly damaging	Het
Scn10a	A	G	9: 119,671,526	I229T	probably damaging	Het
Slco1a1	G	T	6: 141,908,969	T652K	probably benign	Het
Slit1	T	A	19: 41,647,020	I345F	probably damaging	Het
Snrnp200	A	T	2: 127,232,937	I1477F	probably damaging	Het
Snx31	G	A	15: 36,523,552	T328I	possibly damaging	Het
Strn	A	G	17: 78,657,961	F634S	probably damaging	Het
Tmem101	C	T	11: 102,156,329	G6R	probably benign	Het
Tmem199	C	G	11: 78,508,680	G131R	probably benign	Het
Trim66	A	G	7: 109,456,060		probably null	Het
Ttn	G	T	2: 76,851,585		probably benign	Het
Upk3bl	T	C	5: 136,057,393	L61P	probably benign	Het
Vmn2r108	A	G	17: 20,472,370	Y75H	probably damaging	Het
Vmn2r91	T	A	17: 18,107,644	I500K	probably damaging	Het
Vps18	C	T	2: 119,293,791	R400C	probably damaging	Het
Zeb1	C	T	18: 5,767,286	P599L	probably damaging	Het
Zfhx4	G	T	3: 5,399,497	A1572S	probably damaging	Het
Zfp677	T	A	17: 21,397,418	C246S	possibly damaging	Het
Zfp719	T	A	7: 43,590,410	I474N	probably damaging	Het

Other mutations in Igkv12-38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01890:Igkv12-38	APN	6	69943405	missense	probably damaging	1.00
R8802:Igkv12-38	UTSW	6	69943406	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCACTGTGGGAGGAACGTC -3'
(R):5'- TTATTCAGCTGGGTGCAGTC -3'

Sequencing Primer
(F):5'- GGAACGTCATAAGCCTGTTTACAG -3'
(R):5'- CAGTCCTTGGTCTCAGTGAAAATGC -3'

Posted On

2015-11-11