Mutagenetix > Incidental Mutation

Incidental Mutation 'R8802:Igkv12-38'

671552

Institutional Source

Beutler Lab

Gene Symbol

Igkv12-38

Ensembl Gene

ENSMUSG00000076570

Gene Name

immunoglobulin kappa chain variable 12-38

Synonyms

Gm16690

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R8802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69943186-69943648 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69943406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 43 (C43S)

Ref Sequence

ENSEMBL: ENSMUSP00000142787 (fasta)

Gene Model

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

AlphaFold

A0A075B5M8

Predicted Effect

probably damaging
Transcript: ENSMUST00000103371
AA Change: C42S

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

SMART Domains

Protein: ENSMUSP00000100172
Gene: ENSMUSG00000076570
AA Change: C42S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198880
AA Change: C43S

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

SMART Domains

Protein: ENSMUSP00000142787
Gene: ENSMUSG00000076570
AA Change: C43S

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,515,488	T83A	possibly damaging	Het
Abcc6	A	G	7: 46,008,859	L451P	probably damaging	Het
Ak5	T	C	3: 152,615,994	E252G	probably damaging	Het
Atg4a-ps	T	A	3: 103,645,370	K218N	probably damaging	Het
Bglap2	T	A	3: 88,378,261	M35L	probably benign	Het
Bicral	A	G	17: 46,824,700	M528T	probably benign	Het
Cdh23	A	G	10: 60,409,098	V1008A	probably benign	Het
Chil6	A	T	3: 106,404,892	L31Q	probably damaging	Het
Ctnnd2	T	C	15: 30,966,876	V991A	probably damaging	Het
Dcc	T	C	18: 71,826,054	N216D	probably damaging	Het
Dcdc2c	T	A	12: 28,526,721	D106V	probably benign	Het
Dchs2	T	C	3: 83,346,237	I2318T	probably benign	Het
Fat2	A	G	11: 55,282,924	F2321S	possibly damaging	Het
Fbxw7	T	C	3: 84,952,386	V5A	unknown	Het
Fn3krp	T	C	11: 121,424,987	V68A	probably damaging	Het
Gcn1l1	T	C	5: 115,609,883	L1783P	probably damaging	Het
Gdf6	C	T	4: 9,844,769	H98Y	probably damaging	Het
Gm13271	C	A	4: 88,755,010	P48Q	probably damaging	Het
Gm4871	A	T	5: 145,030,066	N202K	probably benign	Het
Gucy1a2	G	A	9: 3,635,050	V365I	probably benign	Het
Hadhb	C	T	5: 30,173,833	Q157*	probably null	Het
Hivep2	C	T	10: 14,139,422	R1778C	probably damaging	Het
Hmcn2	T	A	2: 31,411,276	V2845E	probably damaging	Het
Hps3	T	A	3: 20,019,906	I431L	probably damaging	Het
Idh1	CA	CAA	1: 65,165,188		probably null	Het
Jph2	T	A	2: 163,397,264	H88L	probably damaging	Het
Kmt2b	G	A	7: 30,584,071	R955W	probably damaging	Het
Lrrc4c	A	G	2: 97,630,258	T410A	possibly damaging	Het
Ltf	C	T	9: 111,020,950	P14S	probably benign	Het
Mapk8ip3	G	A	17: 24,905,232	R521C	probably damaging	Het
Nampt	C	A	12: 32,850,436	T460K	probably benign	Het
Nek9	T	C	12: 85,327,418	I282V	probably benign	Het
Ninl	A	T	2: 150,935,252	V1394E	probably damaging	Het
Obox6	G	A	7: 15,833,847	S225L	probably damaging	Het
Olfr424	A	G	1: 174,137,050	Y102C	probably damaging	Het
Pcdha4	A	G	18: 36,954,158	K465E	possibly damaging	Het
Pex11g	T	C	8: 3,457,308	K151R	unknown	Het
Pld2	T	C	11: 70,555,998	L811P	probably damaging	Het
Pum2	C	T	12: 8,728,726	R459*	probably null	Het
Ralgapa1	T	C	12: 55,738,316	S720G	probably damaging	Het
Rbbp6	T	A	7: 122,988,457		probably benign	Het
Rbl1	A	G	2: 157,196,153		probably null	Het
Reln	G	T	5: 21,925,259	R2685S	probably damaging	Het
Rnf213	T	C	11: 119,462,102	F3942L		Het
Rpusd2	T	C	2: 119,034,897	V25A	probably benign	Het
Rusc1	T	A	3: 89,092,233	I81L	probably benign	Het
Serpinb9b	A	G	13: 33,029,604	E48G	probably benign	Het
Skil	C	T	3: 31,113,443	P408L	probably damaging	Het
Slc17a4	A	G	13: 23,905,291	W186R	probably damaging	Het
Syvn1	T	C	19: 6,047,938	F2S	probably benign	Het
Tmc6	T	C	11: 117,775,075	M338V	possibly damaging	Het
Tnfrsf17	A	T	16: 11,319,955	R185S	possibly damaging	Het
Utp20	T	C	10: 88,747,295	K2732R	probably damaging	Het
Vmn1r58	A	T	7: 5,411,081	V50E	probably damaging	Het
Vmn2r114	T	A	17: 23,309,862	D422V	possibly damaging	Het
Vmn2r83	A	T	10: 79,478,427	I170F	probably benign	Het
Xdh	C	T	17: 73,918,410	V466I	probably benign	Het
Xndc1	A	G	7: 102,071,332	I6V	possibly damaging	Het
Zbtb38	T	C	9: 96,685,570	T1154A	probably benign	Het
Zfp160	T	A	17: 21,026,605	H472Q	probably damaging	Het
Zfp438	T	A	18: 5,213,417	T514S	possibly 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
R4729:Igkv12-38	UTSW	6	69943384	missense	possibly damaging	0.71

Predicted Primers

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

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

Posted On

2021-04-30