Mutagenetix > Incidental Mutation

Incidental Mutation 'R2057:Caskin1'

228311

Institutional Source

Beutler Lab

Gene Symbol

Caskin1

Ensembl Gene

ENSMUSG00000033597

Gene Name

CASK interacting protein 1

Synonyms

3300002N10Rik, C630036E02Rik

MMRRC Submission

040062-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2057 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24707575-24727645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24715433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 93 (G93V)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

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

AlphaFold

Q6P9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024958
AA Change: G93V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: G93V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,806,477 (GRCm39)	K764E	probably damaging	Het
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apob	A	T	12: 8,052,164 (GRCm39)	R1202*	probably null	Het
Arfgap3	G	T	15: 83,194,501 (GRCm39)	D389E	probably benign	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atoh8	T	C	6: 72,212,112 (GRCm39)	K13E	probably damaging	Het
Bicral	G	T	17: 47,135,814 (GRCm39)	N465K	possibly damaging	Het
Bves	T	A	10: 45,219,231 (GRCm39)	Y110N	probably damaging	Het
C4b	A	G	17: 34,947,594 (GRCm39)	Y1695H	probably damaging	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd34	T	C	1: 194,641,450 (GRCm39)	V292A	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdh16	C	A	8: 105,348,597 (GRCm39)	G144*	probably null	Het
Chaf1b	T	A	16: 93,691,795 (GRCm39)	H280Q	probably damaging	Het
Chpf2	G	A	5: 24,796,220 (GRCm39)	G389R	probably damaging	Het
Crb1	T	C	1: 139,242,488 (GRCm39)	Y330C	probably damaging	Het
Cux2	A	T	5: 122,007,567 (GRCm39)	V698E	probably benign	Het
Dhtkd1	A	G	2: 5,947,430 (GRCm39)	V18A	unknown	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Enpp1	C	G	10: 24,536,090 (GRCm39)	A437P	probably damaging	Het
Fat2	C	T	11: 55,172,686 (GRCm39)	V2676I	possibly damaging	Het
Fzd2	A	G	11: 102,496,759 (GRCm39)	D401G	probably damaging	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gnai3	C	T	3: 108,019,812 (GRCm39)	V233I	probably benign	Het
Golim4	T	A	3: 75,802,194 (GRCm39)	D366V	possibly damaging	Het
Grin1	T	A	2: 25,206,832 (GRCm39)	T110S	probably damaging	Het
Grin2a	A	G	16: 9,487,608 (GRCm39)	V430A	probably benign	Het
Gstp3	G	A	19: 4,109,282 (GRCm39)	T5I	probably damaging	Het
Il17rb	T	A	14: 29,719,111 (GRCm39)	M324L	probably benign	Het
Jmy	A	G	13: 93,596,211 (GRCm39)	Y473H	probably damaging	Het
Khdc1b	A	G	1: 21,454,534 (GRCm39)	D79G	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Lmo7	G	C	14: 102,124,614 (GRCm39)	A358P	probably damaging	Het
Mdh1b	T	C	1: 63,760,741 (GRCm39)	I107V	probably benign	Het
Mlkl	T	C	8: 112,060,242 (GRCm39)	Q48R	probably benign	Het
Myh2	G	A	11: 67,079,665 (GRCm39)		probably null	Het
Naip1	T	A	13: 100,562,081 (GRCm39)	Q1028L	probably damaging	Het
Ncald	T	A	15: 37,397,423 (GRCm39)	I86F	possibly damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Or1p1	A	G	11: 74,179,652 (GRCm39)	Y60C	probably damaging	Het
Or9r3	A	T	10: 129,947,859 (GRCm39)	S267T	probably benign	Het
Pak1	T	A	7: 97,557,004 (GRCm39)		probably null	Het
Parpbp	T	A	10: 87,960,824 (GRCm39)	M221L	probably benign	Het
Pde12	T	C	14: 26,390,035 (GRCm39)	I225V	probably benign	Het
Phf19	G	T	2: 34,789,620 (GRCm39)	R367S	probably benign	Het
Plcl2	A	G	17: 50,975,139 (GRCm39)		probably null	Het
Plxnb1	A	T	9: 108,938,294 (GRCm39)	I1283F	possibly damaging	Het
Pramel6	T	A	2: 87,339,059 (GRCm39)	N86K	possibly damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prpf40a	A	T	2: 53,034,851 (GRCm39)	I779K	probably damaging	Het
Prss3b	G	A	6: 41,009,315 (GRCm39)	T173I	probably benign	Het
Ptpn20	A	T	14: 33,352,942 (GRCm39)	E227V	probably damaging	Het
Rad54b	C	T	4: 11,606,088 (GRCm39)	R499C	probably benign	Het
Rarg	C	A	15: 102,147,939 (GRCm39)	A291S	probably damaging	Het
Rnf169	A	T	7: 99,574,615 (GRCm39)	L660Q	probably damaging	Het
Scn4a	A	G	11: 106,226,550 (GRCm39)	V670A	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Slc35g2	G	A	9: 100,435,329 (GRCm39)	A114V	probably damaging	Het
Slc7a14	A	T	3: 31,291,645 (GRCm39)	V211E	probably damaging	Het
Snrpn	A	T	7: 59,637,204 (GRCm39)	H37Q	possibly damaging	Het
Spock3	T	A	8: 63,698,204 (GRCm39)	C185*	probably null	Het
Tbc1d4	A	G	14: 101,714,591 (GRCm39)	S627P	probably damaging	Het
Tgoln1	T	C	6: 72,592,653 (GRCm39)	T276A	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tnpo2	T	C	8: 85,776,742 (GRCm39)	L483P	probably damaging	Het
Tpte	T	A	8: 22,808,355 (GRCm39)	D163E	probably benign	Het
Trim36	A	T	18: 46,329,229 (GRCm39)	D70E	probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Wdr90	T	C	17: 26,074,173 (GRCm39)	T691A	probably benign	Het
Zdhhc8	A	G	16: 18,046,210 (GRCm39)	S118P	probably damaging	Het
Zfp438	T	C	18: 5,214,085 (GRCm39)	E291G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	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
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
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'- ACAAGGCCAAGGATGACATC -3'
(R):5'- AGTAGCATCTCTGACTGCGG -3'

Sequencing Primer
(F):5'- TGACATCCTGGCAGCCTTGATG -3'
(R):5'- GACAAGGGCCTGATTATCCCTC -3'

Posted On

2014-09-17