Mutagenetix > Incidental Mutation

Incidental Mutation 'R8705:Igkv5-43'

669228

Institutional Source

Beutler Lab

Gene Symbol

Igkv5-43

Ensembl Gene

ENSMUSG00000094433

Gene Name

immunoglobulin kappa chain variable 5-43

Synonyms

Igk-V23

MMRRC Submission

068559-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.273) question?

Stock #

R8705 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69800339-69800895 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69800592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 32 (S32P)

Ref Sequence

ENSEMBL: ENSMUSP00000100169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103368]

AlphaFold

A0A0B4J1J2

Predicted Effect

probably benign
Transcript: ENSMUST00000103368
AA Change: S32P

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100169
Gene: ENSMUSG00000094433
AA Change: S32P

Domain	Start	End	E-Value	Type
IGv	38	110	3.05e-17	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	G	T	13: 4,484,447 (GRCm39)	G20W	probably damaging	Het
Ces1c	A	G	8: 93,857,518 (GRCm39)	L21P	probably benign	Het
Col11a2	G	T	17: 34,268,769 (GRCm39)	G394V	unknown	Het
Cyp2c70	A	G	19: 40,168,948 (GRCm39)	V113A	probably benign	Het
Foxp1	C	G	6: 98,993,507 (GRCm39)	Q132H	unknown	Het
Fras1	A	T	5: 96,839,260 (GRCm39)	D1593V	probably benign	Het
Frzb	G	A	2: 80,277,241 (GRCm39)		probably benign	Het
Gas6	T	C	8: 13,525,156 (GRCm39)	D276G	probably damaging	Het
Gdf7	C	T	12: 8,348,167 (GRCm39)	E377K	probably damaging	Het
Ggnbp2	A	G	11: 84,753,132 (GRCm39)	F36L	possibly damaging	Het
Gm40460	A	T	7: 141,794,734 (GRCm39)	C28S	unknown	Het
Hnrnpd	A	G	5: 100,111,588 (GRCm39)		probably benign	Het
Hsd17b11	G	A	5: 104,140,703 (GRCm39)	L265F	probably benign	Het
Hyal6	G	A	6: 24,734,673 (GRCm39)	R202H	probably benign	Het
Kank1	A	G	19: 25,388,907 (GRCm39)	Y860C	probably damaging	Het
Krt79	G	A	15: 101,846,441 (GRCm39)	T169M	probably damaging	Het
Lama5	C	T	2: 179,820,354 (GRCm39)	C3296Y	probably damaging	Het
Ly75	A	T	2: 60,148,729 (GRCm39)	I1200K	probably damaging	Het
Myo1b	A	T	1: 51,902,495 (GRCm39)	Y78*	probably null	Het
Napb	A	G	2: 148,542,396 (GRCm39)	V188A	probably benign	Het
Neb	T	C	2: 52,148,795 (GRCm39)	Y2584C	probably damaging	Het
Or52e8	T	C	7: 104,624,446 (GRCm39)	I253V	possibly damaging	Het
P4htm	G	A	9: 108,457,240 (GRCm39)	A381V	probably damaging	Het
Pcdha8	T	A	18: 37,126,906 (GRCm39)	F463I	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,775,612 (GRCm39)	T1030A	probably damaging	Het
Phrf1	T	A	7: 140,838,651 (GRCm39)	F615L	unknown	Het
Prrc2a	A	G	17: 35,372,542 (GRCm39)	S1700P	possibly damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Sf3b5	G	T	10: 12,884,554 (GRCm39)	R63L	probably damaging	Het
Sh3rf1	T	C	8: 61,802,591 (GRCm39)	L308P	probably damaging	Het
Slc7a2	A	T	8: 41,368,032 (GRCm39)	T599S	probably damaging	Het
Sox5	T	C	6: 143,987,012 (GRCm39)	N184S	possibly damaging	Het
Traf3	A	G	12: 111,208,938 (GRCm39)	E119G	possibly damaging	Het
Trim24	T	C	6: 37,880,588 (GRCm39)		probably benign	Het
Ubxn11	A	T	4: 133,853,551 (GRCm39)	I368F	probably damaging	Het
Vmn2r27	C	T	6: 124,207,188 (GRCm39)	G151D	probably damaging	Het
Wfdc16	T	A	2: 164,480,395 (GRCm39)	R33S	possibly damaging	Het
Zfp654	A	G	16: 64,605,433 (GRCm39)	V382A	possibly damaging	Het

Other mutations in Igkv5-43

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Igkv5-43	APN	6	69,752,876 (GRCm39)	nonsense	probably null
IGL02010:Igkv5-43	APN	6	69,752,936 (GRCm39)	missense	probably benign
R3547:Igkv5-43	UTSW	6	69,753,240 (GRCm39)	critical splice donor site	probably benign
R3744:Igkv5-43	UTSW	6	69,752,921 (GRCm39)	missense	probably benign	0.06
R5620:Igkv5-43	UTSW	6	69,800,892 (GRCm39)	missense	probably benign	0.01
R6196:Igkv5-43	UTSW	6	69,752,965 (GRCm39)	missense	possibly damaging	0.52
R6294:Igkv5-43	UTSW	6	69,800,426 (GRCm39)	missense	probably damaging	0.99
R7114:Igkv5-43	UTSW	6	69,800,515 (GRCm39)	missense	probably damaging	1.00
R7169:Igkv5-43	UTSW	6	69,800,519 (GRCm39)	missense	probably damaging	0.98
R8177:Igkv5-43	UTSW	6	69,800,445 (GRCm39)	missense	probably damaging	1.00
R9773:Igkv5-43	UTSW	6	69,752,858 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGATCCACTGCCACTGAAC -3'
(R):5'- AGGTATGACTGCTTGGACATGG -3'

Sequencing Primer
(F):5'- ACTGCCACTGAACCTGGAG -3'
(R):5'- ACCTAGCACCACATTGTATTTGAC -3'

Posted On

2021-04-30