Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02120:Caskin1'

280543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Caskin1

Ensembl Gene

ENSMUSG00000033597

Gene Name

CASK interacting protein 1

Synonyms

C630036E02Rik, 3300002N10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

24488783-24508905 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24500942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 401 (G401V)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

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

AlphaFold

Q6P9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024958
AA Change: G401V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: G401V

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	C	T	4: 144,418,411	R195H	probably benign	Het
Abcb11	T	C	2: 69,257,310	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,056	T113A	possibly damaging	Het
Aox3	T	A	1: 58,127,650	N177K	probably benign	Het
Arhgap29	T	A	3: 122,004,257	V532E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cemip	A	T	7: 83,951,563	M950K	probably damaging	Het
Chrd	T	C	16: 20,734,541	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,285,622	N212S	possibly damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Dlst	T	C	12: 85,118,568	S82P	probably benign	Het
Dmxl1	T	A	18: 49,894,178	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,495,717	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,080,845	M55K	probably benign	Het
Epdr1	A	T	13: 19,594,471	S50T	probably damaging	Het
Gm6169	G	T	13: 97,098,777		probably benign	Het
Gm7808	T	A	9: 19,928,017		probably benign	Het
Huwe1	T	A	X: 151,907,390	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,709,861	T319M	probably damaging	Het
Lama1	G	A	17: 67,716,789	V60M	probably damaging	Het
Lingo3	A	T	10: 80,835,859	L79Q	probably damaging	Het
Magi2	T	A	5: 20,228,453		probably null	Het
Mob2	C	A	7: 142,010,298	V33L	possibly damaging	Het
Mus81	G	A	19: 5,485,633		probably benign	Het
Nup210l	G	A	3: 90,136,862	G490D	probably damaging	Het
Olfr702	A	C	7: 106,823,698	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,309,818	V177A	probably damaging	Het
Pomt2	T	C	12: 87,111,552	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,861,769		probably benign	Het
Ptprq	T	C	10: 107,667,472	E775G	probably damaging	Het
Rad54l	T	C	4: 116,098,984	I549V	probably benign	Het
Ranbp10	T	C	8: 105,805,582	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884	T223S	probably benign	Het
Stxbp6	G	T	12: 44,902,048		probably benign	Het
Syne2	A	G	12: 75,946,706	D2085G	probably damaging	Het
Szt2	C	T	4: 118,388,564	R1064Q	probably benign	Het
Taar3	A	G	10: 23,950,167	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,670,443	S345P	probably damaging	Het
Tgm4	T	A	9: 123,046,529	I149N	probably damaging	Het
Tubal3	T	A	13: 3,930,675	I129N	probably damaging	Het
Vegfc	T	C	8: 54,181,401	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vwf	C	A	6: 125,616,034	L786M	probably benign	Het

Other mutations in Caskin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Caskin1	APN	17	24503889	missense	probably damaging	1.00
IGL00846:Caskin1	APN	17	24499349	critical splice donor site	probably null
IGL01120:Caskin1	APN	17	24505369	missense	possibly damaging	0.56
IGL01543:Caskin1	APN	17	24504548	missense	probably benign
IGL01622:Caskin1	APN	17	24503940	critical splice donor site	probably null
IGL01623:Caskin1	APN	17	24503940	critical splice donor site	probably null
IGL02816:Caskin1	APN	17	24502170	missense	probably benign	0.06
IGL02898:Caskin1	APN	17	24502409	missense	probably benign	0.00
IGL03353:Caskin1	APN	17	24499357	splice site	probably benign
PIT4151001:Caskin1	UTSW	17	24502219	missense	probably damaging	1.00
PIT4453001:Caskin1	UTSW	17	24499292	missense	probably damaging	1.00
R0057:Caskin1	UTSW	17	24504896	missense	probably damaging	1.00
R0057:Caskin1	UTSW	17	24504896	missense	probably damaging	1.00
R0190:Caskin1	UTSW	17	24504622	missense	possibly damaging	0.92
R0443:Caskin1	UTSW	17	24505400	missense	probably damaging	0.96
R0885:Caskin1	UTSW	17	24505694	missense	probably damaging	1.00
R1035:Caskin1	UTSW	17	24505037	missense	probably damaging	1.00
R1253:Caskin1	UTSW	17	24505073	missense	probably damaging	1.00
R1497:Caskin1	UTSW	17	24504541	nonsense	probably null
R1589:Caskin1	UTSW	17	24505478	splice site	probably null
R1651:Caskin1	UTSW	17	24502212	missense	possibly damaging	0.82
R1944:Caskin1	UTSW	17	24500771	missense	probably damaging	0.99
R1969:Caskin1	UTSW	17	24506850	missense	possibly damaging	0.94
R2057:Caskin1	UTSW	17	24496459	missense	probably damaging	0.99
R2127:Caskin1	UTSW	17	24496996	critical splice donor site	probably null
R2158:Caskin1	UTSW	17	24505154	missense	probably benign
R2402:Caskin1	UTSW	17	24503808	missense	probably damaging	1.00
R2895:Caskin1	UTSW	17	24489042	missense	probably damaging	1.00
R3423:Caskin1	UTSW	17	24499565	missense	probably damaging	0.98
R3800:Caskin1	UTSW	17	24501272	missense	probably benign
R4108:Caskin1	UTSW	17	24502147	missense	probably benign
R4419:Caskin1	UTSW	17	24504709	missense	probably damaging	1.00
R4510:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4511:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4552:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4638:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4642:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4644:Caskin1	UTSW	17	24506628	missense	probably benign	0.11
R4824:Caskin1	UTSW	17	24501129	missense	probably benign	0.01
R4882:Caskin1	UTSW	17	24504415	missense	probably damaging	1.00
R4964:Caskin1	UTSW	17	24507161	missense	probably damaging	1.00
R4966:Caskin1	UTSW	17	24507161	missense	probably damaging	1.00
R5809:Caskin1	UTSW	17	24504547	missense	probably benign	0.06
R5841:Caskin1	UTSW	17	24496209	missense	probably damaging	0.99
R5877:Caskin1	UTSW	17	24505265	missense	possibly damaging	0.69
R5960:Caskin1	UTSW	17	24498895	missense	probably benign	0.31
R5994:Caskin1	UTSW	17	24496961	missense	probably damaging	0.98
R6022:Caskin1	UTSW	17	24496735	missense	probably benign	0.37
R6209:Caskin1	UTSW	17	24507121	missense	possibly damaging	0.84
R6228:Caskin1	UTSW	17	24507180	missense	probably damaging	0.99
R6287:Caskin1	UTSW	17	24496709	missense	probably damaging	1.00
R6497:Caskin1	UTSW	17	24504548	missense	probably benign
R6873:Caskin1	UTSW	17	24504179	missense	probably benign	0.31
R7079:Caskin1	UTSW	17	24498884	missense	probably benign	0.31
R7156:Caskin1	UTSW	17	24500683	splice site	probably null
R7385:Caskin1	UTSW	17	24503924	missense	probably damaging	1.00
R7953:Caskin1	UTSW	17	24504221	missense	probably damaging	1.00
R7993:Caskin1	UTSW	17	24499305	nonsense	probably null
R8410:Caskin1	UTSW	17	24502149	missense	possibly damaging	0.90
R8511:Caskin1	UTSW	17	24505936	missense	probably benign	0.12
R8749:Caskin1	UTSW	17	24504800	missense	probably benign	0.00
R8881:Caskin1	UTSW	17	24499299	missense	probably damaging	1.00
R8979:Caskin1	UTSW	17	24498925	missense	possibly damaging	0.51
R9005:Caskin1	UTSW	17	24499137	missense	probably benign	0.00
R9341:Caskin1	UTSW	17	24504473	missense	probably damaging	1.00
R9343:Caskin1	UTSW	17	24504473	missense	probably damaging	1.00
X0022:Caskin1	UTSW	17	24505166	missense	probably benign	0.34
X0063:Caskin1	UTSW	17	24507182	missense	probably damaging	1.00
Z1176:Caskin1	UTSW	17	24505038	missense	probably damaging	1.00
Z1177:Caskin1	UTSW	17	24496687	missense	probably damaging	0.97

Posted On

2015-04-16