Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02823:Ksr1'

361078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ksr1

Ensembl Gene

ENSMUSG00000018334

Gene Name

kinase suppressor of ras 1

Synonyms

D11Bhm183e, B-KSR1, D11Bhm184e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

79013440-79146407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 79021403 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 627 (V627L)

Ref Sequence

ENSEMBL: ENSMUSP00000154385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000226282]

Predicted Effect

probably benign
Transcript: ENSMUST00000018478
AA Change: V709L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: V709L

Domain	Start	End	E-Value	Type
low complexity region	8	31	N/A	INTRINSIC
Pfam:KSR1-SAM	39	166	2.7e-41	PFAM
low complexity region	271	278	N/A	INTRINSIC
C1	334	377	5.48e-8	SMART
low complexity region	429	464	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC
Pfam:Pkinase_Tyr	563	827	2.3e-48	PFAM
Pfam:Pkinase	563	828	1.5e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143473

Predicted Effect

probably benign
Transcript: ENSMUST00000209031

Predicted Effect

probably benign
Transcript: ENSMUST00000226282
AA Change: V627L

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit disorganized hair follicles and a decreased susceptibility to papilloma formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,261,955	S194P	probably damaging	Het
3110043O21Rik	A	T	4: 35,213,031	C215S	probably damaging	Het
Abca7	T	A	10: 80,008,822	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,933,518		probably benign	Het
Atp6ap1l	A	G	13: 90,899,525	V56A	probably benign	Het
Atrip	A	G	9: 109,061,178	Y631H	probably damaging	Het
Dst	A	T	1: 34,192,083	H3097L	possibly damaging	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
Eif2a	G	T	3: 58,548,671	A364S	probably benign	Het
Eps8l2	A	T	7: 141,342,075	D22V	probably damaging	Het
Fam84b	T	C	15: 60,823,123	D258G	probably damaging	Het
Fndc7	A	G	3: 108,869,171	F432S	probably damaging	Het
Gemin5	T	C	11: 58,167,705		probably benign	Het
Grxcr2	T	C	18: 41,991,981	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,614,757	L181P	probably damaging	Het
Lama2	T	C	10: 27,001,145	N2682D	probably damaging	Het
Map3k19	G	T	1: 127,822,264	H1117N	probably benign	Het
Mdc1	C	T	17: 35,852,923	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 71,092,423	S1239N	probably damaging	Het
Olfr322	T	C	11: 58,665,967	M136T	possibly damaging	Het
Prkra	G	T	2: 76,630,424	A310E	probably damaging	Het
Prl2c1	T	C	13: 27,856,433		probably benign	Het
Prl7a2	T	C	13: 27,662,751	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,652,747	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,732,213	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,962,477	T149A	probably benign	Het
Slc39a2	T	A	14: 51,895,412	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,340,427	C58*	probably null	Het
Srebf2	G	A	15: 82,199,774	G965D	possibly damaging	Het
Tcof1	T	C	18: 60,816,048	E1265G	probably benign	Het
Terf2	T	C	8: 107,072,625	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,466,464	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,186,904		probably benign	Het

Other mutations in Ksr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Ksr1	APN	11	79027517	missense	probably damaging	1.00
IGL01304:Ksr1	APN	11	79027642	missense	probably damaging	1.00
IGL01482:Ksr1	APN	11	79036583	missense	probably damaging	1.00
IGL01928:Ksr1	APN	11	79044839	splice site	probably null
IGL02025:Ksr1	APN	11	79021450	splice site	probably null
IGL02176:Ksr1	APN	11	79020791	missense	probably benign	0.00
IGL02374:Ksr1	APN	11	79028491	missense	probably benign	0.02
IGL02511:Ksr1	APN	11	79045220	missense	possibly damaging	0.55
IGL02563:Ksr1	APN	11	79044858	missense	possibly damaging	0.73
IGL02662:Ksr1	APN	11	79036725	missense	probably damaging	1.00
IGL02879:Ksr1	APN	11	79074444	missense	probably damaging	1.00
julius	UTSW	11	79036494	critical splice donor site	probably null
R0096:Ksr1	UTSW	11	79038247	splice site	probably benign
R0096:Ksr1	UTSW	11	79038247	splice site	probably benign
R0364:Ksr1	UTSW	11	79029025	splice site	probably benign
R0479:Ksr1	UTSW	11	79025283	missense	probably damaging	1.00
R0590:Ksr1	UTSW	11	79045140	missense	probably damaging	1.00
R0711:Ksr1	UTSW	11	79038247	splice site	probably benign
R0743:Ksr1	UTSW	11	79021503	missense	possibly damaging	0.79
R0884:Ksr1	UTSW	11	79021503	missense	possibly damaging	0.79
R1272:Ksr1	UTSW	11	79146078	nonsense	probably null
R1739:Ksr1	UTSW	11	79047305	missense	probably damaging	1.00
R1885:Ksr1	UTSW	11	79020378	missense	probably null
R1885:Ksr1	UTSW	11	79036521	missense	probably damaging	1.00
R1886:Ksr1	UTSW	11	79020378	missense	probably null
R2118:Ksr1	UTSW	11	79045193	missense	probably benign	0.10
R2127:Ksr1	UTSW	11	79033313	missense	probably damaging	1.00
R2939:Ksr1	UTSW	11	79045181	splice site	probably null
R4090:Ksr1	UTSW	11	79027477	missense	probably damaging	1.00
R4675:Ksr1	UTSW	11	79074360	missense	possibly damaging	0.81
R4854:Ksr1	UTSW	11	79027702	missense	probably damaging	1.00
R5267:Ksr1	UTSW	11	79020425	missense	probably damaging	1.00
R5813:Ksr1	UTSW	11	79038198	missense	probably damaging	1.00
R5928:Ksr1	UTSW	11	79059719	missense	probably damaging	0.96
R6199:Ksr1	UTSW	11	79020441	missense	possibly damaging	0.65
R6346:Ksr1	UTSW	11	79019664	missense	possibly damaging	0.93
R6377:Ksr1	UTSW	11	79036494	critical splice donor site	probably null
R6885:Ksr1	UTSW	11	79047295	critical splice donor site	probably null
R7016:Ksr1	UTSW	11	79027536	missense	probably damaging	1.00
U24488:Ksr1	UTSW	11	79047441	missense	probably damaging	1.00
Z1088:Ksr1	UTSW	11	79044879	splice site	probably null
Z1176:Ksr1	UTSW	11	79020751	missense	possibly damaging	0.53
Z1176:Ksr1	UTSW	11	79027600	missense	probably benign	0.04

Posted On

2015-12-18