Mutagenetix > Incidental Mutation

Incidental Mutation 'R6116:Igkv12-44'

485115

Institutional Source

Beutler Lab

Gene Symbol

Igkv12-44

Ensembl Gene

ENSMUSG00000096422

Gene Name

immunoglobulin kappa variable 12-44

Synonyms

Gm16851

MMRRC Submission

044265-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.374) question?

Stock #

R6116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69791615-69792084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69791838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 42 (T42A)

Ref Sequence

ENSEMBL: ENSMUSP00000100168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103367]

AlphaFold

A0A140T8M2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103367
AA Change: T42A

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100168
Gene: ENSMUSG00000096422
AA Change: T42A

Domain	Start	End	E-Value	Type
low complexity region	8	15	N/A	INTRINSIC
IGv	38	110	1.86e-21	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,990,327 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,449,508 (GRCm39)	I2101F	probably damaging	Het
Bpifa3	G	A	2: 153,975,633 (GRCm39)	V68I	possibly damaging	Het
Csmd1	T	A	8: 16,261,864 (GRCm39)	I878F	probably damaging	Het
Cyp2c67	A	T	19: 39,605,879 (GRCm39)	M339K	probably damaging	Het
Dock3	A	G	9: 106,809,161 (GRCm39)	Y1321H	probably damaging	Het
Dsc1	G	T	18: 20,230,356 (GRCm39)	D316E	probably benign	Het
Eno3	C	T	11: 70,552,401 (GRCm39)	T351M	possibly damaging	Het
Erbb2	T	A	11: 98,318,225 (GRCm39)	F487Y	probably damaging	Het
Exosc10	T	C	4: 148,657,810 (GRCm39)	L652P	probably benign	Het
Glmn	A	T	5: 107,705,206 (GRCm39)	M470K	probably damaging	Het
Gm15446	T	A	5: 110,090,902 (GRCm39)	C385S	probably damaging	Het
Hspa8	A	G	9: 40,716,271 (GRCm39)	E581G	probably damaging	Het
Igfn1	T	C	1: 135,898,205 (GRCm39)	D787G	probably benign	Het
Itsn2	T	C	12: 4,679,939 (GRCm39)		probably benign	Het
Jade2	T	C	11: 51,726,460 (GRCm39)	E84G	probably damaging	Het
Lpar3	T	A	3: 145,946,352 (GRCm39)	M10K	possibly damaging	Het
Lpin2	A	G	17: 71,550,925 (GRCm39)	D695G	probably damaging	Het
Mosmo	T	A	7: 120,325,418 (GRCm39)	L7H	probably damaging	Het
Ms4a8a	C	T	19: 11,058,436 (GRCm39)	A9T	unknown	Het
Myb	T	C	10: 21,030,653 (GRCm39)	D48G	probably damaging	Het
Neurod6	T	C	6: 55,655,776 (GRCm39)	Y287C	probably damaging	Het
Olr1	T	A	6: 129,476,947 (GRCm39)	D106V	probably damaging	Het
Or11a4	A	G	17: 37,536,459 (GRCm39)	T148A	probably benign	Het
Or8b4	A	G	9: 37,829,955 (GRCm39)	M1V	probably null	Het
Peg10	C	CCCATCAGGA	6: 4,756,351 (GRCm39)		probably benign	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Ppfia3	T	C	7: 45,004,127 (GRCm39)	Y505C	probably damaging	Het
Sdk2	T	A	11: 113,745,190 (GRCm39)	I702F	probably damaging	Het
Slc16a11	T	C	11: 70,106,262 (GRCm39)	F119L	probably benign	Het
Slc2a10	A	C	2: 165,359,623 (GRCm39)	T496P	probably damaging	Het
Slc7a2	T	C	8: 41,353,206 (GRCm39)	Y181H	probably damaging	Het
Spata31e5	G	A	1: 28,817,780 (GRCm39)	A84V	probably benign	Het
Stab2	G	T	10: 86,743,054 (GRCm39)	P1185Q	probably damaging	Het
Tcf7l2	T	A	19: 55,907,446 (GRCm39)	S335R	probably damaging	Het
Ttc41	G	A	10: 86,594,952 (GRCm39)		probably null	Het
Vmn2r32	A	T	7: 7,467,092 (GRCm39)	I812N	probably damaging	Het
Wdr24	C	T	17: 26,043,579 (GRCm39)	H134Y	probably benign	Het

Other mutations in Igkv12-44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4154:Igkv12-44	UTSW	6	69,791,639 (GRCm39)	missense	possibly damaging	0.95
R4238:Igkv12-44	UTSW	6	69,791,868 (GRCm39)	missense	probably benign	0.14
R5771:Igkv12-44	UTSW	6	69,792,075 (GRCm39)	missense	probably benign	0.04
R7471:Igkv12-44	UTSW	6	69,791,718 (GRCm39)	missense	probably damaging	1.00
R7949:Igkv12-44	UTSW	6	69,791,874 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- CTGTGGGAGGAGTACCATAATG -3'
(R):5'- ATTGAGCTTTCTGCACTCTGTG -3'

Sequencing Primer
(F):5'- AAATCTTCAGGCTGCAGGC -3'
(R):5'- GTGCTGCTTGGTCTCAATGAAAATTC -3'

Posted On

2017-08-16