Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Caskin1'

555361

Institutional Source

Beutler Lab

Gene Symbol

Caskin1

Ensembl Gene

ENSMUSG00000033597

Gene Name

CASK interacting protein 1

Synonyms

3300002N10Rik, C630036E02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24707575-24727645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24718266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 292 (Y292C)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024958]

AlphaFold

Q6P9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024958
AA Change: Y292C

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

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: Y292C

Domain	Start	End	E-Value	Type
ANK	48	77	9.93e-5	SMART
ANK	81	110	1.9e-1	SMART
ANK	114	143	1.51e-4	SMART
ANK	147	176	1.15e0	SMART
ANK	188	217	2.6e-8	SMART
ANK	220	249	3.31e-1	SMART
SH3	284	346	3.62e-5	SMART
Pfam:Caskin1-CID	373	421	3e-26	PFAM
SAM	473	539	3.63e-15	SMART
SAM	542	609	5.41e-14	SMART
low complexity region	631	647	N/A	INTRINSIC
low complexity region	667	679	N/A	INTRINSIC
low complexity region	715	724	N/A	INTRINSIC
low complexity region	841	863	N/A	INTRINSIC
Pfam:Caskin-Pro-rich	878	966	3e-37	PFAM
low complexity region	1163	1168	N/A	INTRINSIC
low complexity region	1190	1216	N/A	INTRINSIC
low complexity region	1222	1232	N/A	INTRINSIC
low complexity region	1269	1288	N/A	INTRINSIC
low complexity region	1294	1312	N/A	INTRINSIC
low complexity region	1315	1333	N/A	INTRINSIC
low complexity region	1344	1359	N/A	INTRINSIC
Pfam:Caskin-tail	1369	1431	7.2e-33	PFAM

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 121,898,965 (GRCm39)	I649S	probably damaging	Het
Abcc2	T	A	19: 43,792,221 (GRCm39)	L334*	probably null	Het
Adam28	A	T	14: 68,872,325 (GRCm39)	S306T	probably benign	Het
Adam34	T	A	8: 44,104,349 (GRCm39)	D432V	probably damaging	Het
Adcy7	A	G	8: 89,050,264 (GRCm39)	Y723C	probably benign	Het
Adgre5	T	A	8: 84,451,089 (GRCm39)	M713L	probably benign	Het
Aebp2	C	A	6: 140,583,412 (GRCm39)	C295*	probably null	Het
Amn1	G	T	6: 149,072,357 (GRCm39)	Q127K	probably benign	Het
Atcay	C	T	10: 81,046,383 (GRCm39)	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,488,495 (GRCm39)	E847G	probably benign	Het
Atp2b1	A	G	10: 98,852,840 (GRCm39)	E1039G	probably benign	Het
Cftr	A	G	6: 18,214,105 (GRCm39)	T94A	probably damaging	Het
Ciart	T	A	3: 95,787,788 (GRCm39)	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079 (GRCm39)	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,145,097 (GRCm39)	S298R	possibly damaging	Het
Cul7	T	A	17: 46,962,746 (GRCm39)	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Cypt4	G	C	9: 24,536,770 (GRCm39)	A87P	probably damaging	Het
Disp2	G	A	2: 118,618,125 (GRCm39)	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,638,979 (GRCm39)		probably null	Het
Dock1	A	G	7: 134,754,029 (GRCm39)	K1602R	probably benign	Het
Ears2	T	C	7: 121,647,562 (GRCm39)	I241V	probably benign	Het
Eml6	T	C	11: 29,752,489 (GRCm39)	T975A	probably damaging	Het
Ephb2	T	C	4: 136,388,121 (GRCm39)	T660A	probably benign	Het
Fbxw7	G	A	3: 84,872,621 (GRCm39)	V268M		Het
Gart	A	G	16: 91,433,426 (GRCm39)	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,681,520 (GRCm39)	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031 (GRCm39)	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032 (GRCm39)	Q975H	probably benign	Het
Grik5	C	A	7: 24,710,119 (GRCm39)	R872L	probably damaging	Het
Hmox2	T	A	16: 4,582,921 (GRCm39)	I218N	probably damaging	Het
Hook1	A	T	4: 95,903,089 (GRCm39)	D526V	probably damaging	Het
Ifna4	A	T	4: 88,760,191 (GRCm39)	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,270,492 (GRCm39)	N213Y	unknown	Het
Itih4	G	A	14: 30,623,127 (GRCm39)	V900I	probably benign	Het
Itpr2	A	T	6: 146,274,671 (GRCm39)	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,469,941 (GRCm39)	V147A	probably benign	Het
Klra9	T	A	6: 130,168,284 (GRCm39)		probably benign	Het
Lamp3	G	T	16: 19,492,210 (GRCm39)	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,807,822 (GRCm39)	E1188K	probably damaging	Het
Med1	T	A	11: 98,049,243 (GRCm39)	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,205,447 (GRCm39)	T242A	probably damaging	Het
Nemp1	T	A	10: 127,532,123 (GRCm39)	F392Y	probably benign	Het
Obscn	C	A	11: 58,951,802 (GRCm39)	G3984W	probably damaging	Het
Obscn	T	A	11: 58,960,660 (GRCm39)	H3217L	possibly damaging	Het
Or10ak7	A	G	4: 118,791,823 (GRCm39)	M74T	probably benign	Het
Or13j1	A	G	4: 43,706,464 (GRCm39)	Y35H	probably damaging	Het
Or2d3b	C	T	7: 106,514,136 (GRCm39)	H244Y	probably damaging	Het
Or2d3c	T	C	7: 106,526,049 (GRCm39)	I206V	probably benign	Het
Or5l14	C	T	2: 87,792,802 (GRCm39)	V145M	possibly damaging	Het
P4ha1	G	T	10: 59,186,294 (GRCm39)	A258S	probably benign	Het
Parn	T	C	16: 13,425,145 (GRCm39)	I423V	probably benign	Het
Pcdh20	C	A	14: 88,704,744 (GRCm39)	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,722,784 (GRCm39)		probably null	Het
Pcsk1	A	T	13: 75,260,769 (GRCm39)	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,748,761 (GRCm39)	S1803R	probably benign	Het
Pkd1l3	C	A	8: 110,387,433 (GRCm39)	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,913,469 (GRCm39)	Q1119K		Het
Prr30	T	A	14: 101,436,371 (GRCm39)	T64S	probably benign	Het
Rec114	T	C	9: 58,567,653 (GRCm39)	N111S	probably benign	Het
Reck	G	A	4: 43,895,850 (GRCm39)	V79I	probably benign	Het
Rexo1	A	G	10: 80,386,231 (GRCm39)	F276L	probably damaging	Het
Rgs6	T	C	12: 83,138,553 (GRCm39)	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,197,793 (GRCm39)	R2149G	probably benign	Het
Slc20a2	C	A	8: 23,025,398 (GRCm39)	F33L	probably damaging	Het
Spopl	T	A	2: 23,435,461 (GRCm39)	T25S	probably damaging	Het
Srcap	A	T	7: 127,148,492 (GRCm39)	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,881,291 (GRCm39)		probably null	Het
St8sia1	C	T	6: 142,774,978 (GRCm39)	W200*	probably null	Het
Tas2r106	A	T	6: 131,655,465 (GRCm39)	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,570,857 (GRCm39)	L205Q	probably damaging	Het
Tchh	C	A	3: 93,353,187 (GRCm39)	R876S	unknown	Het
Thap12	G	T	7: 98,364,245 (GRCm39)	A138S	probably benign	Het
Tjp1	C	T	7: 64,993,362 (GRCm39)		probably null	Het
Traf4	G	A	11: 78,052,360 (GRCm39)	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 72,903,447 (GRCm39)		probably null	Het
Usp20	G	A	2: 30,907,498 (GRCm39)	V677M	possibly damaging	Het
Usp50	C	A	2: 126,625,236 (GRCm39)		probably benign	Het
Vmn1r21	T	C	6: 57,821,307 (GRCm39)	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,363,669 (GRCm39)	H408L	probably benign	Het
Zfp266	T	C	9: 20,417,299 (GRCm39)	T30A	probably benign	Het
Zfp536	T	C	7: 37,179,182 (GRCm39)	H1141R	probably benign	Het

Other mutations in Caskin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Caskin1	APN	17	24,722,863 (GRCm39)	missense	probably damaging	1.00
IGL00846:Caskin1	APN	17	24,718,323 (GRCm39)	critical splice donor site	probably null
IGL01120:Caskin1	APN	17	24,724,343 (GRCm39)	missense	possibly damaging	0.56
IGL01543:Caskin1	APN	17	24,723,522 (GRCm39)	missense	probably benign
IGL01622:Caskin1	APN	17	24,722,914 (GRCm39)	critical splice donor site	probably null
IGL01623:Caskin1	APN	17	24,722,914 (GRCm39)	critical splice donor site	probably null
IGL02120:Caskin1	APN	17	24,719,916 (GRCm39)	missense	probably damaging	1.00
IGL02816:Caskin1	APN	17	24,721,144 (GRCm39)	missense	probably benign	0.06
IGL02898:Caskin1	APN	17	24,721,383 (GRCm39)	missense	probably benign	0.00
IGL03353:Caskin1	APN	17	24,718,331 (GRCm39)	splice site	probably benign
PIT4151001:Caskin1	UTSW	17	24,721,193 (GRCm39)	missense	probably damaging	1.00
R0057:Caskin1	UTSW	17	24,723,870 (GRCm39)	missense	probably damaging	1.00
R0057:Caskin1	UTSW	17	24,723,870 (GRCm39)	missense	probably damaging	1.00
R0190:Caskin1	UTSW	17	24,723,596 (GRCm39)	missense	possibly damaging	0.92
R0443:Caskin1	UTSW	17	24,724,374 (GRCm39)	missense	probably damaging	0.96
R0885:Caskin1	UTSW	17	24,724,668 (GRCm39)	missense	probably damaging	1.00
R1035:Caskin1	UTSW	17	24,724,011 (GRCm39)	missense	probably damaging	1.00
R1253:Caskin1	UTSW	17	24,724,047 (GRCm39)	missense	probably damaging	1.00
R1497:Caskin1	UTSW	17	24,723,515 (GRCm39)	nonsense	probably null
R1589:Caskin1	UTSW	17	24,724,452 (GRCm39)	splice site	probably null
R1651:Caskin1	UTSW	17	24,721,186 (GRCm39)	missense	possibly damaging	0.82
R1944:Caskin1	UTSW	17	24,719,745 (GRCm39)	missense	probably damaging	0.99
R1969:Caskin1	UTSW	17	24,725,824 (GRCm39)	missense	possibly damaging	0.94
R2057:Caskin1	UTSW	17	24,715,433 (GRCm39)	missense	probably damaging	0.99
R2127:Caskin1	UTSW	17	24,715,970 (GRCm39)	critical splice donor site	probably null
R2158:Caskin1	UTSW	17	24,724,128 (GRCm39)	missense	probably benign
R2402:Caskin1	UTSW	17	24,722,782 (GRCm39)	missense	probably damaging	1.00
R2895:Caskin1	UTSW	17	24,708,016 (GRCm39)	missense	probably damaging	1.00
R3423:Caskin1	UTSW	17	24,718,539 (GRCm39)	missense	probably damaging	0.98
R3800:Caskin1	UTSW	17	24,720,246 (GRCm39)	missense	probably benign
R4108:Caskin1	UTSW	17	24,721,121 (GRCm39)	missense	probably benign
R4419:Caskin1	UTSW	17	24,723,683 (GRCm39)	missense	probably damaging	1.00
R4510:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4511:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4552:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4638:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4642:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4644:Caskin1	UTSW	17	24,725,602 (GRCm39)	missense	probably benign	0.11
R4824:Caskin1	UTSW	17	24,720,103 (GRCm39)	missense	probably benign	0.01
R4882:Caskin1	UTSW	17	24,723,389 (GRCm39)	missense	probably damaging	1.00
R4964:Caskin1	UTSW	17	24,726,135 (GRCm39)	missense	probably damaging	1.00
R4966:Caskin1	UTSW	17	24,726,135 (GRCm39)	missense	probably damaging	1.00
R5809:Caskin1	UTSW	17	24,723,521 (GRCm39)	missense	probably benign	0.06
R5841:Caskin1	UTSW	17	24,715,183 (GRCm39)	missense	probably damaging	0.99
R5877:Caskin1	UTSW	17	24,724,239 (GRCm39)	missense	possibly damaging	0.69
R5960:Caskin1	UTSW	17	24,717,869 (GRCm39)	missense	probably benign	0.31
R5994:Caskin1	UTSW	17	24,715,935 (GRCm39)	missense	probably damaging	0.98
R6022:Caskin1	UTSW	17	24,715,709 (GRCm39)	missense	probably benign	0.37
R6209:Caskin1	UTSW	17	24,726,095 (GRCm39)	missense	possibly damaging	0.84
R6228:Caskin1	UTSW	17	24,726,154 (GRCm39)	missense	probably damaging	0.99
R6287:Caskin1	UTSW	17	24,715,683 (GRCm39)	missense	probably damaging	1.00
R6497:Caskin1	UTSW	17	24,723,522 (GRCm39)	missense	probably benign
R6873:Caskin1	UTSW	17	24,723,153 (GRCm39)	missense	probably benign	0.31
R7079:Caskin1	UTSW	17	24,717,858 (GRCm39)	missense	probably benign	0.31
R7156:Caskin1	UTSW	17	24,719,657 (GRCm39)	splice site	probably null
R7385:Caskin1	UTSW	17	24,722,898 (GRCm39)	missense	probably damaging	1.00
R7953:Caskin1	UTSW	17	24,723,195 (GRCm39)	missense	probably damaging	1.00
R7993:Caskin1	UTSW	17	24,718,279 (GRCm39)	nonsense	probably null
R8410:Caskin1	UTSW	17	24,721,123 (GRCm39)	missense	possibly damaging	0.90
R8511:Caskin1	UTSW	17	24,724,910 (GRCm39)	missense	probably benign	0.12
R8749:Caskin1	UTSW	17	24,723,774 (GRCm39)	missense	probably benign	0.00
R8881:Caskin1	UTSW	17	24,718,273 (GRCm39)	missense	probably damaging	1.00
R8979:Caskin1	UTSW	17	24,717,899 (GRCm39)	missense	possibly damaging	0.51
R9005:Caskin1	UTSW	17	24,718,111 (GRCm39)	missense	probably benign	0.00
R9341:Caskin1	UTSW	17	24,723,447 (GRCm39)	missense	probably damaging	1.00
R9343:Caskin1	UTSW	17	24,723,447 (GRCm39)	missense	probably damaging	1.00
X0022:Caskin1	UTSW	17	24,724,140 (GRCm39)	missense	probably benign	0.34
X0063:Caskin1	UTSW	17	24,726,156 (GRCm39)	missense	probably damaging	1.00
Z1176:Caskin1	UTSW	17	24,724,012 (GRCm39)	missense	probably damaging	1.00
Z1177:Caskin1	UTSW	17	24,715,661 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTTACAACGTCCCAGGCCAG -3'
(R):5'- CATCTGGATGCTGTTCAAGTAC -3'

Sequencing Primer
(F):5'- CCAGGCCAGCAAGGAGATC -3'
(R):5'- GGATGCTGTTCAAGTACCTGACC -3'

Posted On

2019-06-07