Mutagenetix > Incidental Mutation

Incidental Mutation 'R0590:Ksr1'

55935

Institutional Source

Beutler Lab

Gene Symbol

Ksr1

Ensembl Gene

ENSMUSG00000018334

Gene Name

kinase suppressor of ras 1

Synonyms

D11Bhm183e, B-KSR1, D11Bhm184e

MMRRC Submission

038780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R0590 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79013440-79146407 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79045140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 133 (S133P)

Ref Sequence

ENSEMBL: ENSMUSP00000116407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018478] [ENSMUST00000108264] [ENSMUST00000129463] [ENSMUST00000141409] [ENSMUST00000208969] [ENSMUST00000226282]

AlphaFold

Q61097

Predicted Effect

probably damaging
Transcript: ENSMUST00000018478
AA Change: S215P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: S215P

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

probably damaging
Transcript: ENSMUST00000108264
AA Change: S215P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: S215P

Domain	Start	End	E-Value	Type
low complexity region	8	31	N/A	INTRINSIC
Pfam:KSR1-SAM	39	166	8.9e-51	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	563	637	1e-6	PFAM
Pfam:Pkinase_Tyr	563	637	2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129463

SMART Domains

Protein: ENSMUSP00000114538
Gene: ENSMUSG00000018334

Domain	Start	End	E-Value	Type
Pfam:KSR1-SAM	1	46	5.9e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141409
AA Change: S133P

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

SMART Domains

Protein: ENSMUSP00000116407
Gene: ENSMUSG00000018334
AA Change: S133P

Domain	Start	End	E-Value	Type
Pfam:KSR1-SAM	35	84	1.6e-12	PFAM
low complexity region	189	196	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000208969
AA Change: S140P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226282
AA Change: S133P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.1752

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (47/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	C	T	4: 49,383,273	M93I	probably benign	Het
Adamts16	T	C	13: 70,800,954	D196G	probably benign	Het
Adhfe1	T	A	1: 9,548,153		probably null	Het
AI661453	A	G	17: 47,467,074		probably benign	Het
Apc	G	T	18: 34,316,230	E2026*	probably null	Het
Atg2a	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	GCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	19: 6,245,007		probably benign	Het
BC017158	A	G	7: 128,297,470	L134P	probably damaging	Het
Cad	T	C	5: 31,062,231	S688P	probably damaging	Het
Ccdc191	C	T	16: 43,931,341	R345*	probably null	Het
Dcaf13	T	A	15: 39,145,085		probably benign	Het
Drc1	A	G	5: 30,363,136	D607G	probably benign	Het
Fam160a1	T	C	3: 85,672,376	R841G	probably benign	Het
Gli1	G	T	10: 127,331,563	A607E	possibly damaging	Het
Gls	G	A	1: 52,212,375		probably benign	Het
Gria1	A	T	11: 57,289,409	Q728H	probably damaging	Het
Hcrtr1	A	G	4: 130,135,694	L198P	probably damaging	Het
Ifngr1	T	A	10: 19,603,942		probably benign	Het
Ipo5	T	C	14: 120,944,357	V954A	possibly damaging	Het
Kcnh5	G	T	12: 74,965,261	A628D	probably damaging	Het
Kif14	T	C	1: 136,482,472	S646P	probably damaging	Het
Neb	T	C	2: 52,137,290	M7143V	probably damaging	Het
Nelfa	G	A	5: 33,901,825	P229S	probably damaging	Het
Nfatc2	T	C	2: 168,571,199	T169A	probably damaging	Het
Nr1h4	A	G	10: 89,456,567	Y398H	probably damaging	Het
Nrcam	A	G	12: 44,564,032	E511G	probably damaging	Het
Ocstamp	T	A	2: 165,397,751	R172W	probably damaging	Het
Olfr1130	A	G	2: 87,607,994	E202G	probably damaging	Het
Olfr26	T	A	9: 38,855,470	M136K	probably damaging	Het
Olfr27	T	C	9: 39,144,721	V207A	probably benign	Het
Phf14	G	A	6: 11,961,578	V405I	possibly damaging	Het
Plk5	G	A	10: 80,360,223	R238H	probably damaging	Het
Pole	A	G	5: 110,317,926	E1240G	probably benign	Het
Prdm15	A	G	16: 97,797,761	I899T	possibly damaging	Het
Psip1	T	C	4: 83,458,144	N486S	probably benign	Het
Rlf	A	G	4: 121,170,833		probably benign	Het
Rttn	T	C	18: 88,979,635	S255P	probably damaging	Het
Sema6c	A	G	3: 95,172,623	K711E	probably damaging	Het
Slc4a10	A	T	2: 62,190,893		probably benign	Het
Trim36	T	G	18: 46,172,576	S435R	probably benign	Het
Ucp1	A	G	8: 83,291,603		probably benign	Het
Vmn1r17	T	C	6: 57,361,014	Y122C	probably benign	Het
Vmn1r23	A	G	6: 57,926,364	V143A	probably benign	Het
Wdfy4	T	A	14: 33,041,174	Q2166L	probably benign	Het
Zc3h7b	C	T	15: 81,776,998	T346M	possibly damaging	Het
Zfhx4	T	A	3: 5,402,633	V2617D	probably damaging	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
IGL02823:Ksr1	APN	11	79021403	missense	probably benign	0.35
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
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
R8803:Ksr1	UTSW	11	79146056	missense	probably benign	0.02
R8984:Ksr1	UTSW	11	79040883	missense	probably damaging	1.00
R8991:Ksr1	UTSW	11	79045188	missense	probably benign	0.01
R9056:Ksr1	UTSW	11	79027639	missense	possibly damaging	0.78
R9077:Ksr1	UTSW	11	79036726	missense	probably damaging	1.00
R9139:Ksr1	UTSW	11	79020746	missense	probably benign	0.00
R9308:Ksr1	UTSW	11	79027465	missense	probably damaging	1.00
R9447:Ksr1	UTSW	11	79018333	missense	unknown
R9455:Ksr1	UTSW	11	79020776	missense	possibly damaging	0.92
R9511:Ksr1	UTSW	11	79033268	missense	possibly damaging	0.95
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

Predicted Primers

PCR Primer
(F):5'- CAACTGCATCATAGGGATGGACACC -3'
(R):5'- TGAGTGCCTTGTATTTCTGACCGAC -3'

Sequencing Primer
(F):5'- CAGTCCTTAGTATGTGCCTAAGAG -3'
(R):5'- CTGACCGACTCCTTGGC -3'

Posted On

2013-07-11