Mutagenetix > Incidental Mutation

Incidental Mutation 'R1035:Caskin1'

95575

Institutional Source

Beutler Lab

Gene Symbol

Caskin1

Ensembl Gene

ENSMUSG00000033597

Gene Name

CASK interacting protein 1

Synonyms

3300002N10Rik, C630036E02Rik

MMRRC Submission

039134-MU

Accession Numbers

Essential gene?

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

Stock #

R1035 (G1)

Quality Score

103

Status

Validated

Chromosome

Chromosomal Location

24707575-24727645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24724011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 933 (N933S)

Ref Sequence

ENSEMBL: ENSMUSP00000024958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024958] [ENSMUST00000070777] [ENSMUST00000088464] [ENSMUST00000176086] [ENSMUST00000176353] [ENSMUST00000176652] [ENSMUST00000176668]

AlphaFold

Q6P9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000024958
AA Change: N933S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024958
Gene: ENSMUSG00000033597
AA Change: N933S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000070777

SMART Domains

Protein: ENSMUSP00000069334
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	92	125	4.73e-6	SMART
coiled coil region	264	332	N/A	INTRINSIC
WD40	344	383	8.35e-11	SMART
WD40	387	424	8.42e-7	SMART
WD40	427	463	2.09e-2	SMART
WD40	468	504	1.92e0	SMART
WD40	507	544	5.15e-2	SMART
WD40	547	588	1.78e-5	SMART
WD40	591	628	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088464

SMART Domains

Protein: ENSMUSP00000085812
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART
Pfam:zf-TRAF	221	277	3.4e-8	PFAM
coiled coil region	304	372	N/A	INTRINSIC
WD40	384	423	8.35e-11	SMART
WD40	427	464	8.42e-7	SMART
WD40	467	503	2.09e-2	SMART
WD40	508	544	1.92e0	SMART
WD40	547	584	5.15e-2	SMART
WD40	587	628	1.78e-5	SMART
WD40	631	668	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176086

SMART Domains

Protein: ENSMUSP00000135845
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	103	132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176353

SMART Domains

Protein: ENSMUSP00000135267
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
RING	92	125	4.73e-6	SMART
coiled coil region	264	332	N/A	INTRINSIC
WD40	344	383	8.35e-11	SMART
WD40	387	424	8.42e-7	SMART
WD40	427	463	2.09e-2	SMART
WD40	468	504	1.92e0	SMART
WD40	507	544	5.15e-2	SMART
WD40	547	588	1.78e-5	SMART
WD40	591	628	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176652

SMART Domains

Protein: ENSMUSP00000134759
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	90	104	N/A	INTRINSIC
low complexity region	109	117	N/A	INTRINSIC
RING	130	163	4.73e-6	SMART
coiled coil region	304	372	N/A	INTRINSIC
WD40	384	423	8.35e-11	SMART
WD40	427	464	8.42e-7	SMART
WD40	467	503	2.09e-2	SMART
WD40	508	544	1.92e0	SMART
WD40	547	584	5.15e-2	SMART
WD40	587	628	1.78e-5	SMART
WD40	631	668	1.63e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176668

SMART Domains

Protein: ENSMUSP00000135586
Gene: ENSMUSG00000052752

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176805

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.9%
20x: 88.4%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Ap3b2	A	T	7: 81,113,659 (GRCm39)	L850Q	unknown	Het
Asxl3	T	C	18: 22,658,106 (GRCm39)	S2039P	probably damaging	Het
Cadm2	A	T	16: 66,612,235 (GRCm39)	M109K	probably damaging	Het
Cbln4	T	C	2: 171,883,989 (GRCm39)	N77S	possibly damaging	Het
Chek1	A	G	9: 36,627,769 (GRCm39)	I256T	probably damaging	Het
Col5a3	A	T	9: 20,704,795 (GRCm39)		probably benign	Het
Cyp2b10	C	T	7: 25,616,473 (GRCm39)	S360L	probably benign	Het
Dctn1	T	C	6: 83,167,202 (GRCm39)	S222P	probably damaging	Het
Dnah7b	A	G	1: 46,163,608 (GRCm39)	I471V	probably benign	Het
Ear2	A	T	14: 44,340,344 (GRCm39)	M1L	possibly damaging	Het
Entpd6	T	A	2: 150,606,112 (GRCm39)		probably benign	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam98b	C	T	2: 117,101,120 (GRCm39)	R311W	possibly damaging	Het
Ggt7	A	T	2: 155,348,347 (GRCm39)	C102S	probably damaging	Het
Myo15a	T	C	11: 60,401,384 (GRCm39)		probably benign	Het
Nlrp9c	C	T	7: 26,070,702 (GRCm39)		probably benign	Het
Nrxn1	A	T	17: 90,471,302 (GRCm39)	N1234K	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Pcsk1	T	C	13: 75,280,238 (GRCm39)	S688P	probably benign	Het
Polr1a	T	C	6: 71,944,900 (GRCm39)	F1319L	probably benign	Het
Ppig	T	C	2: 69,579,803 (GRCm39)	Y446H	unknown	Het
Spmap2	G	A	10: 79,419,684 (GRCm39)	T182M	probably damaging	Het
Stk17b	T	C	1: 53,801,758 (GRCm39)	T88A	probably benign	Het
Tas2r143	A	T	6: 42,377,199 (GRCm39)	I10F	probably benign	Het
Tmprss12	G	A	15: 100,183,081 (GRCm39)	R141Q	probably benign	Het
Trpa1	A	G	1: 14,961,527 (GRCm39)		probably null	Het
Txndc16	A	G	14: 45,410,020 (GRCm39)	S187P	possibly damaging	Het
Vmn2r98	T	C	17: 19,301,011 (GRCm39)	I671T	possibly damaging	Het
Zfp78	G	T	7: 6,381,660 (GRCm39)	V237F	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
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

Predicted Primers

PCR Primer
(F):5'- CTTGAATCGCTATGCAGCATCCGAC -3'
(R):5'- TGTGCTTCACAGAGGCCAACAC -3'

Sequencing Primer
(F):5'- TATGCAGCATCCGACAGTGAG -3'
(R):5'- AACATGGCTGCGATGCTC -3'

Posted On

2014-01-05