Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Caskin2'

180689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Caskin2

Ensembl Gene

ENSMUSG00000034471

Gene Name

CASK-interacting protein 2

Synonyms

1600028L06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

115690009-115704465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115695543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 273 (I273V)

Ref Sequence

ENSEMBL: ENSMUSP00000041328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041684] [ENSMUST00000132780] [ENSMUST00000156812]

AlphaFold

Q8VHK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041684
AA Change: I273V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041328
Gene: ENSMUSG00000034471
AA Change: I273V

Domain	Start	End	E-Value	Type
ANK	2	32	1.27e3	SMART
ANK	48	77	3.01e-4	SMART
ANK	81	110	3.41e-3	SMART
ANK	114	143	1.4e-4	SMART
ANK	147	176	3.26e0	SMART
ANK	188	217	3.33e-6	SMART
ANK	220	249	4.82e-3	SMART
SH3	284	346	1.13e-6	SMART
SAM	485	551	8.53e-12	SMART
SAM	554	621	1.41e-12	SMART
low complexity region	762	774	N/A	INTRINSIC
Pfam:Caskin-Pro-rich	793	883	1.4e-32	PFAM
low complexity region	904	921	N/A	INTRINSIC
low complexity region	925	944	N/A	INTRINSIC
low complexity region	961	973	N/A	INTRINSIC
low complexity region	1042	1069	N/A	INTRINSIC
low complexity region	1084	1090	N/A	INTRINSIC
low complexity region	1120	1132	N/A	INTRINSIC
Pfam:Caskin-tail	1144	1201	4.5e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125658

Predicted Effect

probably benign
Transcript: ENSMUST00000132780

SMART Domains

Protein: ENSMUSP00000119158
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	27	56	3.01e-4	SMART
ANK	60	89	3.41e-3	SMART
ANK	93	122	1.4e-4	SMART
ANK	126	155	3.26e0	SMART
ANK	167	196	3.33e-6	SMART
ANK	199	228	4.82e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156812

SMART Domains

Protein: ENSMUSP00000114310
Gene: ENSMUSG00000034471

Domain	Start	End	E-Value	Type
ANK	2	32	1.27e3	SMART
ANK	48	77	3.01e-4	SMART
ANK	81	110	3.41e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
C3ar1	T	A	6: 122,828,194 (GRCm39)	T8S	probably benign	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	probably damaging	Het

Other mutations in Caskin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Caskin2	APN	11	115,694,425 (GRCm39)	missense	probably benign	0.00
IGL02322:Caskin2	APN	11	115,695,303 (GRCm39)	missense	probably damaging	0.99
R0119:Caskin2	UTSW	11	115,693,253 (GRCm39)	unclassified	probably benign
R0127:Caskin2	UTSW	11	115,691,820 (GRCm39)	missense	probably damaging	1.00
R0565:Caskin2	UTSW	11	115,691,842 (GRCm39)	missense	probably damaging	1.00
R0741:Caskin2	UTSW	11	115,695,626 (GRCm39)	missense	probably damaging	1.00
R1332:Caskin2	UTSW	11	115,694,171 (GRCm39)	unclassified	probably benign
R1474:Caskin2	UTSW	11	115,694,522 (GRCm39)	missense	probably benign	0.05
R1720:Caskin2	UTSW	11	115,693,608 (GRCm39)	missense	probably damaging	1.00
R1968:Caskin2	UTSW	11	115,694,440 (GRCm39)	missense	probably benign	0.00
R2054:Caskin2	UTSW	11	115,697,127 (GRCm39)	unclassified	probably benign
R2061:Caskin2	UTSW	11	115,694,456 (GRCm39)	missense	probably benign
R2893:Caskin2	UTSW	11	115,692,103 (GRCm39)	missense	probably benign	0.00
R3036:Caskin2	UTSW	11	115,697,182 (GRCm39)	missense	probably damaging	1.00
R3123:Caskin2	UTSW	11	115,695,623 (GRCm39)	missense	probably damaging	1.00
R3124:Caskin2	UTSW	11	115,695,623 (GRCm39)	missense	probably damaging	1.00
R4822:Caskin2	UTSW	11	115,698,125 (GRCm39)	missense	probably damaging	1.00
R5095:Caskin2	UTSW	11	115,691,564 (GRCm39)	missense	probably benign
R5654:Caskin2	UTSW	11	115,690,905 (GRCm39)	critical splice acceptor site	probably null
R5743:Caskin2	UTSW	11	115,693,115 (GRCm39)	missense	possibly damaging	0.66
R5801:Caskin2	UTSW	11	115,694,299 (GRCm39)	missense	probably damaging	1.00
R5808:Caskin2	UTSW	11	115,692,589 (GRCm39)	missense	probably damaging	1.00
R6259:Caskin2	UTSW	11	115,691,279 (GRCm39)	missense	probably damaging	1.00
R6618:Caskin2	UTSW	11	115,690,855 (GRCm39)	missense	possibly damaging	0.89
R7142:Caskin2	UTSW	11	115,697,562 (GRCm39)	missense	probably benign	0.29
R7192:Caskin2	UTSW	11	115,692,202 (GRCm39)	missense	probably damaging	1.00
R7247:Caskin2	UTSW	11	115,692,722 (GRCm39)	missense	probably benign
R7290:Caskin2	UTSW	11	115,695,615 (GRCm39)	missense	possibly damaging	0.63
R7451:Caskin2	UTSW	11	115,702,981 (GRCm39)	start gained	probably benign
R9126:Caskin2	UTSW	11	115,702,730 (GRCm39)	missense	possibly damaging	0.93
R9177:Caskin2	UTSW	11	115,698,683 (GRCm39)	missense	probably damaging	0.98
R9354:Caskin2	UTSW	11	115,693,468 (GRCm39)	missense	probably damaging	1.00
R9445:Caskin2	UTSW	11	115,694,576 (GRCm39)	missense	probably damaging	1.00
X0063:Caskin2	UTSW	11	115,697,238 (GRCm39)	missense	probably damaging	1.00
Z1176:Caskin2	UTSW	11	115,694,446 (GRCm39)	missense	probably benign	0.04
Z1176:Caskin2	UTSW	11	115,692,929 (GRCm39)	missense	probably damaging	1.00
Z1176:Caskin2	UTSW	11	115,692,922 (GRCm39)	missense	probably damaging	1.00
Z1177:Caskin2	UTSW	11	115,697,607 (GRCm39)	missense	possibly damaging	0.82

Posted On

2014-05-07