Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02879:Ksr1'

362742

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

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

IGL02879

Quality Score

Status

Chromosome

Chromosomal Location

78904266-79037233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78965270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 15 (L15F)

Ref Sequence

ENSEMBL: ENSMUSP00000146527 (fasta)

Gene Model

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

AlphaFold

Q61097

Predicted Effect

probably damaging
Transcript: ENSMUST00000018478
AA Change: L90F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: L90F

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: L90F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: L90F

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 damaging
Transcript: ENSMUST00000208969
AA Change: L15F

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,659,966 (GRCm39)	Y245C	probably damaging	Het
Asb3	G	A	11: 31,051,067 (GRCm39)	R507H	probably damaging	Het
Cacna1g	A	C	11: 94,300,431 (GRCm39)	I2118S	probably benign	Het
Col3a1	A	T	1: 45,380,119 (GRCm39)		probably benign	Het
Ecscr	T	C	18: 35,846,731 (GRCm39)	N221S	possibly damaging	Het
Enpp4	T	C	17: 44,412,841 (GRCm39)	D231G	probably benign	Het
Fastkd5	A	G	2: 130,456,341 (GRCm39)	Y750H	probably damaging	Het
Gm42688	A	G	6: 83,084,125 (GRCm39)	Y510C	probably damaging	Het
Gtse1	T	C	15: 85,753,264 (GRCm39)		probably benign	Het
Il4ra	A	G	7: 125,176,069 (GRCm39)	E759G	possibly damaging	Het
Itgb4	A	G	11: 115,885,178 (GRCm39)	D1019G	probably benign	Het
Kcnh1	T	C	1: 191,959,223 (GRCm39)	V259A	probably damaging	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Myh15	A	T	16: 48,993,422 (GRCm39)	T1686S	possibly damaging	Het
Neb	A	C	2: 52,146,697 (GRCm39)	L2856V	possibly damaging	Het
Nkapd1	C	T	9: 50,520,671 (GRCm39)		probably null	Het
Pcnx2	A	T	8: 126,498,796 (GRCm39)	C1568S	probably damaging	Het
Pld5	T	A	1: 175,798,157 (GRCm39)	K352I	probably damaging	Het
Prmt3	A	G	7: 49,467,811 (GRCm39)	D339G	probably benign	Het
Ptbp2	A	G	3: 119,534,054 (GRCm39)	Y272H	probably damaging	Het
Ptprb	A	G	10: 116,163,873 (GRCm39)	D847G	probably benign	Het
Rin1	C	T	19: 5,101,383 (GRCm39)	T89I	probably damaging	Het
Runx1t1	T	C	4: 13,889,868 (GRCm39)	I599T	unknown	Het
Serinc3	A	G	2: 163,474,172 (GRCm39)		probably benign	Het
Slc27a5	C	T	7: 12,728,971 (GRCm39)		probably benign	Het
Terf2	C	T	8: 107,803,329 (GRCm39)	S417N	probably benign	Het
Tyw1	T	C	5: 130,325,612 (GRCm39)	V500A	probably damaging	Het
Upk1b	G	A	16: 38,596,640 (GRCm39)		probably benign	Het
Vmn1r81	C	T	7: 11,994,319 (GRCm39)	M96I	probably benign	Het
Vmn2r11	A	T	5: 109,201,704 (GRCm39)	Y267N	possibly damaging	Het

Other mutations in Ksr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Ksr1	APN	11	78,918,343 (GRCm39)	missense	probably damaging	1.00
IGL01304:Ksr1	APN	11	78,918,468 (GRCm39)	missense	probably damaging	1.00
IGL01482:Ksr1	APN	11	78,927,409 (GRCm39)	missense	probably damaging	1.00
IGL01928:Ksr1	APN	11	78,935,665 (GRCm39)	splice site	probably null
IGL02025:Ksr1	APN	11	78,912,276 (GRCm39)	splice site	probably null
IGL02176:Ksr1	APN	11	78,911,617 (GRCm39)	missense	probably benign	0.00
IGL02374:Ksr1	APN	11	78,919,317 (GRCm39)	missense	probably benign	0.02
IGL02511:Ksr1	APN	11	78,936,046 (GRCm39)	missense	possibly damaging	0.55
IGL02563:Ksr1	APN	11	78,935,684 (GRCm39)	missense	possibly damaging	0.73
IGL02662:Ksr1	APN	11	78,927,551 (GRCm39)	missense	probably damaging	1.00
IGL02823:Ksr1	APN	11	78,912,229 (GRCm39)	missense	probably benign	0.35
julius	UTSW	11	78,927,320 (GRCm39)	critical splice donor site	probably null
R0096:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0096:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0364:Ksr1	UTSW	11	78,919,851 (GRCm39)	splice site	probably benign
R0479:Ksr1	UTSW	11	78,916,109 (GRCm39)	missense	probably damaging	1.00
R0590:Ksr1	UTSW	11	78,935,966 (GRCm39)	missense	probably damaging	1.00
R0711:Ksr1	UTSW	11	78,929,073 (GRCm39)	splice site	probably benign
R0743:Ksr1	UTSW	11	78,912,329 (GRCm39)	missense	possibly damaging	0.79
R0884:Ksr1	UTSW	11	78,912,329 (GRCm39)	missense	possibly damaging	0.79
R1272:Ksr1	UTSW	11	79,036,904 (GRCm39)	nonsense	probably null
R1739:Ksr1	UTSW	11	78,938,131 (GRCm39)	missense	probably damaging	1.00
R1885:Ksr1	UTSW	11	78,927,347 (GRCm39)	missense	probably damaging	1.00
R1885:Ksr1	UTSW	11	78,911,204 (GRCm39)	missense	probably null
R1886:Ksr1	UTSW	11	78,911,204 (GRCm39)	missense	probably null
R2118:Ksr1	UTSW	11	78,936,019 (GRCm39)	missense	probably benign	0.10
R2127:Ksr1	UTSW	11	78,924,139 (GRCm39)	missense	probably damaging	1.00
R2939:Ksr1	UTSW	11	78,936,007 (GRCm39)	splice site	probably null
R4090:Ksr1	UTSW	11	78,918,303 (GRCm39)	missense	probably damaging	1.00
R4675:Ksr1	UTSW	11	78,965,186 (GRCm39)	missense	possibly damaging	0.81
R4854:Ksr1	UTSW	11	78,918,528 (GRCm39)	missense	probably damaging	1.00
R5267:Ksr1	UTSW	11	78,911,251 (GRCm39)	missense	probably damaging	1.00
R5813:Ksr1	UTSW	11	78,929,024 (GRCm39)	missense	probably damaging	1.00
R5928:Ksr1	UTSW	11	78,950,545 (GRCm39)	missense	probably damaging	0.96
R6199:Ksr1	UTSW	11	78,911,267 (GRCm39)	missense	possibly damaging	0.65
R6346:Ksr1	UTSW	11	78,910,490 (GRCm39)	missense	possibly damaging	0.93
R6377:Ksr1	UTSW	11	78,927,320 (GRCm39)	critical splice donor site	probably null
R6885:Ksr1	UTSW	11	78,938,121 (GRCm39)	critical splice donor site	probably null
R7016:Ksr1	UTSW	11	78,918,362 (GRCm39)	missense	probably damaging	1.00
R8803:Ksr1	UTSW	11	79,036,882 (GRCm39)	missense	probably benign	0.02
R8984:Ksr1	UTSW	11	78,931,709 (GRCm39)	missense	probably damaging	1.00
R8991:Ksr1	UTSW	11	78,936,014 (GRCm39)	missense	probably benign	0.01
R9056:Ksr1	UTSW	11	78,918,465 (GRCm39)	missense	possibly damaging	0.78
R9077:Ksr1	UTSW	11	78,927,552 (GRCm39)	missense	probably damaging	1.00
R9139:Ksr1	UTSW	11	78,911,572 (GRCm39)	missense	probably benign	0.00
R9308:Ksr1	UTSW	11	78,918,291 (GRCm39)	missense	probably damaging	1.00
R9447:Ksr1	UTSW	11	78,909,159 (GRCm39)	missense	unknown
R9455:Ksr1	UTSW	11	78,911,602 (GRCm39)	missense	possibly damaging	0.92
R9511:Ksr1	UTSW	11	78,924,094 (GRCm39)	missense	possibly damaging	0.95
U24488:Ksr1	UTSW	11	78,938,267 (GRCm39)	missense	probably damaging	1.00
Z1088:Ksr1	UTSW	11	78,935,705 (GRCm39)	splice site	probably null
Z1176:Ksr1	UTSW	11	78,918,426 (GRCm39)	missense	probably benign	0.04
Z1176:Ksr1	UTSW	11	78,911,577 (GRCm39)	missense	possibly damaging	0.53

Posted On

2015-12-18