Mutagenetix > Incidental Mutation

Incidental Mutation 'R4854:Ksr1'

373815

Institutional Source

Beutler Lab

Gene Symbol

Ksr1

Ensembl Gene

ENSMUSG00000018334

Gene Name

kinase suppressor of ras 1

Synonyms

D11Bhm183e, B-KSR1, D11Bhm184e

MMRRC Submission

042465-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R4854 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78904266-79037233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78918528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 460 (I460N)

Ref Sequence

ENSEMBL: ENSMUSP00000154385 (fasta)

Gene Model

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

AlphaFold

Q61097

Predicted Effect

probably damaging
Transcript: ENSMUST00000018478
AA Change: I542N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018478
Gene: ENSMUSG00000018334
AA Change: I542N

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: I542N

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

SMART Domains

Protein: ENSMUSP00000103899
Gene: ENSMUSG00000018334
AA Change: I542N

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

noncoding transcript
Transcript: ENSMUST00000143473

Predicted Effect

probably benign
Transcript: ENSMUST00000208969

Predicted Effect

probably damaging
Transcript: ENSMUST00000226282
AA Change: I460N

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

Meta Mutation Damage Score

0.2447

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (103/105)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	T	A	9: 22,119,333 (GRCm39)		noncoding transcript	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abl1	T	C	2: 31,669,022 (GRCm39)	Y110H	probably damaging	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Agbl3	G	A	6: 34,762,219 (GRCm39)	R73Q	probably damaging	Het
Agl	C	T	3: 116,572,267 (GRCm39)		probably null	Het
Amotl1	G	A	9: 14,504,747 (GRCm39)	Q191*	probably null	Het
Apbb1ip	A	G	2: 22,743,214 (GRCm39)	K349E	possibly damaging	Het
Arhgap10	G	A	8: 78,146,718 (GRCm39)	Q229*	probably null	Het
Aspm	C	T	1: 139,405,810 (GRCm39)	Q1566*	probably null	Het
B3gnt3	G	A	8: 72,145,517 (GRCm39)	R284C	probably damaging	Het
Bltp3b	T	G	10: 89,630,346 (GRCm39)	V382G	probably damaging	Het
Brd4	A	G	17: 32,439,211 (GRCm39)	V423A	probably damaging	Het
Btbd9	A	T	17: 30,743,839 (GRCm39)	I221N	probably damaging	Het
Camp	A	G	9: 109,676,519 (GRCm39)	V168A	probably benign	Het
Cd1d2	T	A	3: 86,896,556 (GRCm39)		probably null	Het
Cdkn2d	A	T	9: 21,202,223 (GRCm39)	V8D	probably benign	Het
Cimap1a	A	G	7: 140,429,375 (GRCm39)	Y168C	probably damaging	Het
Clec4g	T	C	8: 3,766,534 (GRCm39)	N256D	probably damaging	Het
Clspn	A	G	4: 126,469,743 (GRCm39)	I771V	probably benign	Het
Cntn6	A	G	6: 104,836,436 (GRCm39)	E862G	possibly damaging	Het
Col6a5	T	C	9: 105,775,950 (GRCm39)	T1702A	probably benign	Het
Dnah7a	T	C	1: 53,745,888 (GRCm39)		probably benign	Het
Dubr	T	C	16: 50,552,886 (GRCm39)		noncoding transcript	Het
Dusp26	G	A	8: 31,584,165 (GRCm39)	V91M	probably damaging	Het
Edc4	A	T	8: 106,614,557 (GRCm39)		probably benign	Het
F5	C	T	1: 164,019,715 (GRCm39)	A730V	probably damaging	Het
Foxf1	A	G	8: 121,813,553 (GRCm39)	T358A	probably benign	Het
Frem1	A	T	4: 82,834,995 (GRCm39)	N1810K	possibly damaging	Het
Galc	A	T	12: 98,223,136 (GRCm39)	F87I	probably damaging	Het
Gars1	A	G	6: 55,023,403 (GRCm39)	D66G	probably damaging	Het
Gbp11	G	A	5: 105,473,374 (GRCm39)	L460F	probably damaging	Het
Gdf7	T	C	12: 8,348,014 (GRCm39)	I436V	probably damaging	Het
Gigyf2	C	T	1: 87,282,135 (GRCm39)		probably benign	Het
Gm12239	T	C	11: 55,906,779 (GRCm39)		noncoding transcript	Het
Gm5592	A	C	7: 40,866,895 (GRCm39)		probably benign	Het
Gp2	A	T	7: 119,051,422 (GRCm39)	D264E	possibly damaging	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Grid1	A	G	14: 35,043,598 (GRCm39)	I318V	probably benign	Het
Grm2	C	A	9: 106,531,331 (GRCm39)	V53F	possibly damaging	Het
Gtpbp1	T	C	15: 79,603,406 (GRCm39)	S632P	probably benign	Het
H2-M1	A	G	17: 36,980,950 (GRCm39)	F329L	probably benign	Het
Hecw1	T	A	13: 14,491,477 (GRCm39)	D92V	probably benign	Het
Hgh1	T	C	15: 76,253,382 (GRCm39)	L76P	probably damaging	Het
Idi2	C	A	13: 9,007,879 (GRCm39)	N63K	probably benign	Het
Ift122	A	G	6: 115,839,707 (GRCm39)	T25A	possibly damaging	Het
Itgb2l	A	T	16: 96,227,317 (GRCm39)	C575*	probably null	Het
Jup	A	G	11: 100,273,867 (GRCm39)	S225P	possibly damaging	Het
Kcng3	A	T	17: 83,895,735 (GRCm39)	C244S	probably damaging	Het
Klhl2	T	A	8: 65,287,111 (GRCm39)	M46L	possibly damaging	Het
Lama3	T	A	18: 12,544,599 (GRCm39)	F314Y	probably benign	Het
Lbp	T	C	2: 158,169,438 (GRCm39)	V421A	possibly damaging	Het
Lcp1	G	A	14: 75,437,929 (GRCm39)	G113D	probably damaging	Het
Lrp1b	A	T	2: 41,001,089 (GRCm39)	L2045H	probably damaging	Het
Mbd2	G	T	18: 70,701,806 (GRCm39)	D107Y	unknown	Het
Ms4a14	C	T	19: 11,287,733 (GRCm39)	V96I	possibly damaging	Het
N4bp2l2	C	T	5: 150,585,516 (GRCm39)	E155K	probably benign	Het
Nbeal2	T	G	9: 110,460,464 (GRCm39)	H1790P	probably damaging	Het
Nsg2	G	A	11: 31,981,806 (GRCm39)	G84R	probably benign	Het
Or10ad1b	A	C	15: 98,125,425 (GRCm39)	F34V	possibly damaging	Het
Or12e10	A	G	2: 87,640,934 (GRCm39)	T257A	probably damaging	Het
P2rx2	T	C	5: 110,488,793 (GRCm39)	N224D	probably damaging	Het
P2rx5	A	T	11: 73,062,605 (GRCm39)	E438V	probably benign	Het
Paip1	C	A	13: 119,586,425 (GRCm39)		probably benign	Het
Pik3c2g	T	A	6: 139,714,505 (GRCm39)	V219E	probably damaging	Het
Ppp1r12b	T	C	1: 134,801,689 (GRCm39)	E509G	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,797 (GRCm39)	S4G	probably benign	Het
Ppp5c	T	C	7: 16,742,947 (GRCm39)	S224G	probably benign	Het
Prr30	T	G	14: 101,435,879 (GRCm39)	I228L	probably benign	Het
Purg	A	G	8: 33,877,342 (GRCm39)	I327V	possibly damaging	Het
Ralb	T	C	1: 119,403,645 (GRCm39)	T161A	probably benign	Het
Ripor3	T	C	2: 167,834,733 (GRCm39)	R253G	probably benign	Het
Scgb2b6	T	C	7: 31,317,257 (GRCm39)		noncoding transcript	Het
Setd5	G	T	6: 113,128,360 (GRCm39)	G1438W	probably damaging	Het
Sh3rf3	T	A	10: 58,649,545 (GRCm39)	L50Q	possibly damaging	Het
Sipa1l2	G	T	8: 126,200,340 (GRCm39)	T662K	probably damaging	Het
Skint5	A	G	4: 113,437,725 (GRCm39)	L1021S	unknown	Het
Slc22a23	T	C	13: 34,387,924 (GRCm39)	S391G	probably benign	Het
Slc4a5	G	A	6: 83,247,999 (GRCm39)	V402I	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Spink5	A	T	18: 44,153,908 (GRCm39)	*1018C	probably null	Het
Stag3	T	A	5: 138,294,956 (GRCm39)		probably null	Het
Tmem117	T	C	15: 94,992,569 (GRCm39)	F410L	probably damaging	Het
Tmod1	A	G	4: 46,090,920 (GRCm39)	K158E	possibly damaging	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Traf4	G	A	11: 78,052,346 (GRCm39)	Q100*	probably null	Het
Trpc4	A	G	3: 54,209,639 (GRCm39)	Y668C	probably damaging	Het
Ttn	T	A	2: 76,597,927 (GRCm39)	N11335I	possibly damaging	Het
Usp39	A	T	6: 72,302,665 (GRCm39)	V463E	probably benign	Het
Vmn1r6	A	C	6: 56,979,683 (GRCm39)	Y115S	probably benign	Het
Vmn2r44	A	G	7: 8,383,300 (GRCm39)	I98T	possibly damaging	Het
Zfp462	A	G	4: 55,010,668 (GRCm39)	Y878C	probably damaging	Het
Zfp474	T	C	18: 52,771,503 (GRCm39)	I52T	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
IGL02879:Ksr1	APN	11	78,965,270 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTTGAACAGCTTCAGGTGG -3'
(R):5'- CTGTGTGTTCAGACAGAGAGGAC -3'

Sequencing Primer
(F):5'- GTCCTGATTGTGGCCGTCC -3'
(R):5'- CAGGAGGCCAGGGTAGC -3'

Posted On

2016-03-01