Mutagenetix > Incidental Mutation

Incidental Mutation 'R3423:Caskin1'

267138

Institutional Source

Beutler Lab

Gene Symbol

Caskin1

Ensembl Gene

ENSMUSG00000033597

Gene Name

CASK interacting protein 1

Synonyms

3300002N10Rik, C630036E02Rik

MMRRC Submission

040641-MU

Accession Numbers

Essential gene?

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

Stock #

R3423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24707575-24727645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24718539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 331 (N331K)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

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

AlphaFold

Q6P9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024958
AA Change: N331K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: N331K

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

Meta Mutation Damage Score

0.1330

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8	A	G	17: 32,535,429 (GRCm39)	F195S	possibly damaging	Het
Aldh3a1	G	A	11: 61,106,362 (GRCm39)	A246T	probably damaging	Het
Ceacam5	G	A	7: 17,491,562 (GRCm39)	S644N	possibly damaging	Het
Csmd3	A	T	15: 47,710,648 (GRCm39)	D1646E	probably damaging	Het
Cyp4a12a	A	C	4: 115,184,471 (GRCm39)	K282T	probably benign	Het
Dtnb	C	T	12: 3,641,962 (GRCm39)	R42*	probably null	Het
Dyrk3	A	G	1: 131,057,219 (GRCm39)	I318T	probably damaging	Het
Fhip2b	G	A	14: 70,824,025 (GRCm39)	T535M	probably damaging	Het
Gm11110	T	C	17: 57,410,435 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,055,792 (GRCm39)		noncoding transcript	Het
Igfn1	A	G	1: 135,926,379 (GRCm39)	S24P	probably benign	Het
Inpp4b	A	G	8: 82,678,890 (GRCm39)	M307V	possibly damaging	Het
Ism2	T	C	12: 87,333,871 (GRCm39)	N58S	probably benign	Het
Kmt2a	A	C	9: 44,731,394 (GRCm39)		probably benign	Het
Limk1	A	G	5: 134,701,523 (GRCm39)		probably null	Het
Lrrc14	T	A	15: 76,597,318 (GRCm39)		probably null	Het
Mapt	C	T	11: 104,189,548 (GRCm39)	R189*	probably null	Het
Meltf	C	T	16: 31,715,343 (GRCm39)	R679*	probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Mug2	T	C	6: 122,024,465 (GRCm39)		probably benign	Het
Myo15a	G	A	11: 60,401,126 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,834,084 (GRCm39)	T293A	probably benign	Het
Nwd2	A	T	5: 63,957,504 (GRCm39)	Y278F	probably damaging	Het
Or12d12	T	A	17: 37,610,761 (GRCm39)	D184V	probably benign	Het
Phactr4	A	C	4: 132,097,058 (GRCm39)	D496E	probably benign	Het
Pramel6	T	A	2: 87,341,140 (GRCm39)		probably null	Het
Ptprq	C	T	10: 107,418,337 (GRCm39)	A1680T	probably damaging	Het
Retnlb	T	A	16: 48,639,008 (GRCm39)	C70S	probably damaging	Het
Ros1	C	A	10: 52,004,512 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,574,615 (GRCm39)	D875G	probably damaging	Het
Slc18b1	T	G	10: 23,698,874 (GRCm39)	M348R	probably damaging	Het
Slc36a3	G	T	11: 55,033,607 (GRCm39)	T137K	probably benign	Het
Sos2	T	C	12: 69,650,327 (GRCm39)	N865D	probably damaging	Het
Sp9	G	A	2: 73,104,315 (GRCm39)	A290T	probably benign	Het
Spg11	C	T	2: 121,901,534 (GRCm39)	V1469I	probably benign	Het
Unc13c	G	T	9: 73,837,935 (GRCm39)	A972D	possibly damaging	Het
Vwa3a	T	C	7: 120,398,334 (GRCm39)	L945P	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
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
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
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'- TATCACGGTGAGGACAGTCC -3'
(R):5'- CATGGCTAGAGTTCAACCTGG -3'

Sequencing Primer
(F):5'- AGGGACTCTGTCATACTTAGAACAC -3'
(R):5'- GCTAGAGTTCAACCTGGCTCTG -3'

Posted On

2015-02-18