Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02898:Caskin1'

363475

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02898

Quality Score

Status

Chromosome

Chromosomal Location

24707575-24727645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24721383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 544 (E544D)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

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

AlphaFold

Q6P9K8

Predicted Effect

probably benign
Transcript: ENSMUST00000024958
AA Change: E544D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: E544D

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,178,065 (GRCm39)		probably benign	Het
Brd3	A	G	2: 27,349,753 (GRCm39)	S267P	possibly damaging	Het
Btaf1	A	G	19: 36,946,468 (GRCm39)	T425A	probably benign	Het
Col20a1	C	T	2: 180,630,905 (GRCm39)	Q58*	probably null	Het
Eif2ak1	G	A	5: 143,826,270 (GRCm39)	V428I	probably damaging	Het
Fez2	A	G	17: 78,692,184 (GRCm39)	I345T	probably benign	Het
Focad	A	T	4: 88,310,234 (GRCm39)	M1388L	probably benign	Het
Gfer	T	C	17: 24,914,921 (GRCm39)	R41G	probably benign	Het
Gm9956	C	T	10: 56,621,350 (GRCm39)	S4L	unknown	Het
Krtap6-1	G	A	16: 88,828,643 (GRCm39)	G13D	unknown	Het
Megf8	A	G	7: 25,045,933 (GRCm39)	E1492G	possibly damaging	Het
Myh7	T	C	14: 55,221,197 (GRCm39)	I909V	probably damaging	Het
Or11g25	T	A	14: 50,723,643 (GRCm39)	S243T	probably damaging	Het
Or1e21	T	A	11: 73,344,561 (GRCm39)	H159L	probably damaging	Het
Otog	A	G	7: 45,959,562 (GRCm39)	E717G	probably damaging	Het
Pik3r4	A	G	9: 105,527,605 (GRCm39)	I319M	probably benign	Het
Piwil4	A	T	9: 14,617,583 (GRCm39)		probably benign	Het
Plekho1	T	A	3: 95,899,493 (GRCm39)	H100L	probably damaging	Het
Prr30	T	G	14: 101,435,917 (GRCm39)	D215A	probably benign	Het
Prss52	C	T	14: 64,351,115 (GRCm39)	A300V	possibly damaging	Het
Ralgps2	C	A	1: 156,645,314 (GRCm39)	K514N	probably benign	Het
Robo4	T	C	9: 37,319,472 (GRCm39)	I463T	probably damaging	Het
Sars1	A	T	3: 108,336,579 (GRCm39)	F268Y	probably damaging	Het
Sidt1	C	T	16: 44,102,858 (GRCm39)	R289Q	possibly damaging	Het
Slco1a8	T	A	6: 141,940,023 (GRCm39)	Y140F	probably benign	Het
Slco2a1	T	C	9: 102,956,805 (GRCm39)	V539A	probably damaging	Het
Snrnp200	A	G	2: 127,058,676 (GRCm39)		probably benign	Het
Spag17	A	G	3: 100,008,702 (GRCm39)	D1944G	probably benign	Het
Spata1	C	T	3: 146,181,094 (GRCm39)	R288Q	possibly damaging	Het
Tatdn3	T	C	1: 190,778,507 (GRCm39)	*233W	probably null	Het
Ttc3	T	A	16: 94,220,285 (GRCm39)	V536E	probably damaging	Het
V1rd19	A	C	7: 23,702,854 (GRCm39)	T107P	probably damaging	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
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
PIT4453001:Caskin1	UTSW	17	24,718,266 (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

Posted On

2015-12-18