Mutagenetix > Incidental Mutation

Incidental Mutation 'R4539:Sphkap'

333429

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

SKIP, A930009L15Rik, 4930544G21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4539 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83255514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 745 (V745A)

Ref Sequence

ENSEMBL: ENSMUSP00000124872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159078] [ENSMUST00000160953]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000053075

Predicted Effect

probably benign
Transcript: ENSMUST00000159078
AA Change: V458A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: V458A

Domain	Start	End	E-Value	Type
low complexity region	303	314	N/A	INTRINSIC
SCOP:d1ash__	382	462	5e-3	SMART
low complexity region	809	819	N/A	INTRINSIC
low complexity region	854	865	N/A	INTRINSIC
low complexity region	1202	1221	N/A	INTRINSIC
low complexity region	1243	1254	N/A	INTRINSIC
Pfam:AKAP_110	1281	1398	7.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160953
AA Change: V745A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: V745A

Domain	Start	End	E-Value	Type
low complexity region	590	601	N/A	INTRINSIC
SCOP:d1ash__	669	749	6e-3	SMART
low complexity region	1096	1106	N/A	INTRINSIC
low complexity region	1141	1152	N/A	INTRINSIC
low complexity region	1489	1508	N/A	INTRINSIC
Pfam:AKAP_110	1540	1655	6.4e-12	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,765,793 (GRCm39)	T702A	probably benign	Het
Alms1	C	T	6: 85,597,460 (GRCm39)	T762I	possibly damaging	Het
Arhgef18	T	C	8: 3,497,070 (GRCm39)	M465T	probably benign	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Camta1	T	C	4: 151,169,269 (GRCm39)	I161V	probably benign	Het
Cpeb4	G	A	11: 31,823,206 (GRCm39)	G307S	probably damaging	Het
Eps8l1	T	C	7: 4,481,623 (GRCm39)	V707A	probably damaging	Het
Espn	G	A	4: 152,218,665 (GRCm39)	Q473*	probably null	Het
Fut9	A	T	4: 25,619,793 (GRCm39)	H340Q	probably damaging	Het
Gm11554	A	T	11: 99,695,186 (GRCm39)		probably benign	Het
Hcar2	A	G	5: 124,002,793 (GRCm39)	F237L	probably damaging	Het
Hectd4	T	A	5: 121,452,970 (GRCm39)	C492*	probably null	Het
Lrrk2	C	T	15: 91,613,345 (GRCm39)	P823L	possibly damaging	Het
Luzp2	A	T	7: 54,713,037 (GRCm39)	Q91L	probably damaging	Het
Mapkapk5	T	A	5: 121,675,218 (GRCm39)	H117L	possibly damaging	Het
Myh14	A	G	7: 44,276,478 (GRCm39)	L1209P	probably damaging	Het
Myo3b	T	G	2: 69,869,491 (GRCm39)	M1R	probably null	Het
Nacad	A	T	11: 6,550,677 (GRCm39)	V838E	possibly damaging	Het
Neurl1a	T	A	19: 47,245,183 (GRCm39)	S458T	probably damaging	Het
Pdzrn4	A	G	15: 92,668,470 (GRCm39)	D874G	probably damaging	Het
Phykpl	A	G	11: 51,484,915 (GRCm39)	T292A	probably damaging	Het
Piezo2	A	G	18: 63,219,699 (GRCm39)	Y1003H	probably damaging	Het
Ppih	A	G	4: 119,177,656 (GRCm39)	S6P	probably benign	Het
Qrich1	A	G	9: 108,411,399 (GRCm39)	E308G	probably damaging	Het
Setx	A	G	2: 29,069,760 (GRCm39)	T2522A	probably benign	Het
Slc26a8	A	T	17: 28,878,591 (GRCm39)	M332K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Swi5	T	C	2: 32,169,092 (GRCm39)	N118S	possibly damaging	Het
Tenm2	T	C	11: 35,937,607 (GRCm39)	T1689A	probably damaging	Het
Ttll9	C	T	2: 152,836,011 (GRCm39)	R252C	probably damaging	Het
Vars2	T	A	17: 35,977,780 (GRCm39)	E80V	probably damaging	Het
Zbtb39	G	A	10: 127,578,061 (GRCm39)	D212N	possibly damaging	Het
Zfp418	C	A	7: 7,184,276 (GRCm39)	Q80K	probably benign	Het
Zscan25	A	G	5: 145,225,201 (GRCm39)	D259G	probably benign	Het

Other mutations in Sphkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sphkap	APN	1	83,258,237 (GRCm39)	missense	probably damaging	1.00
IGL00337:Sphkap	APN	1	83,317,329 (GRCm39)	missense	probably damaging	1.00
IGL00470:Sphkap	APN	1	83,255,631 (GRCm39)	missense	possibly damaging	0.87
IGL00577:Sphkap	APN	1	83,256,565 (GRCm39)	missense	probably damaging	1.00
IGL00657:Sphkap	APN	1	83,254,096 (GRCm39)	missense	probably damaging	1.00
IGL01868:Sphkap	APN	1	83,258,120 (GRCm39)	splice site	probably null
IGL02101:Sphkap	APN	1	83,268,708 (GRCm39)	missense	probably damaging	1.00
IGL02471:Sphkap	APN	1	83,253,897 (GRCm39)	missense	probably damaging	1.00
IGL02943:Sphkap	APN	1	83,254,552 (GRCm39)	missense	probably damaging	1.00
IGL02945:Sphkap	APN	1	83,254,552 (GRCm39)	missense	probably damaging	1.00
IGL03008:Sphkap	APN	1	83,254,552 (GRCm39)	missense	probably damaging	1.00
IGL03031:Sphkap	APN	1	83,254,552 (GRCm39)	missense	probably damaging	1.00
IGL03059:Sphkap	APN	1	83,234,963 (GRCm39)	missense	probably damaging	0.97
IGL03085:Sphkap	APN	1	83,258,075 (GRCm39)	missense	possibly damaging	0.92
IGL03355:Sphkap	APN	1	83,258,224 (GRCm39)	missense	probably damaging	1.00
IGL03356:Sphkap	APN	1	83,254,552 (GRCm39)	missense	probably damaging	1.00
IGL03368:Sphkap	APN	1	83,253,397 (GRCm39)	missense	probably benign	0.14
R0294:Sphkap	UTSW	1	83,255,966 (GRCm39)	missense	possibly damaging	0.72
R0308:Sphkap	UTSW	1	83,254,690 (GRCm39)	missense	probably damaging	1.00
R0478:Sphkap	UTSW	1	83,256,432 (GRCm39)	missense	probably damaging	1.00
R0606:Sphkap	UTSW	1	83,258,145 (GRCm39)	missense	probably damaging	1.00
R0678:Sphkap	UTSW	1	83,256,349 (GRCm39)	missense	probably benign	0.03
R1216:Sphkap	UTSW	1	83,268,698 (GRCm39)	missense	probably damaging	1.00
R1253:Sphkap	UTSW	1	83,256,619 (GRCm39)	missense	possibly damaging	0.56
R1532:Sphkap	UTSW	1	83,234,924 (GRCm39)	missense	probably damaging	1.00
R1635:Sphkap	UTSW	1	83,256,121 (GRCm39)	missense	probably benign	0.03
R1655:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1657:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1700:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1701:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1734:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1736:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1743:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1744:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1760:Sphkap	UTSW	1	83,255,265 (GRCm39)	missense	probably benign	0.29
R1893:Sphkap	UTSW	1	83,256,687 (GRCm39)	missense	probably benign	0.02
R1937:Sphkap	UTSW	1	83,245,162 (GRCm39)	nonsense	probably null
R1986:Sphkap	UTSW	1	83,255,643 (GRCm39)	missense	probably damaging	1.00
R1993:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R1995:Sphkap	UTSW	1	83,255,236 (GRCm39)	nonsense	probably null
R2001:Sphkap	UTSW	1	83,254,383 (GRCm39)	missense	probably damaging	1.00
R2004:Sphkap	UTSW	1	83,255,632 (GRCm39)	missense	probably benign	0.04
R2111:Sphkap	UTSW	1	83,253,602 (GRCm39)	missense	probably benign	0.00
R2112:Sphkap	UTSW	1	83,253,602 (GRCm39)	missense	probably benign	0.00
R2156:Sphkap	UTSW	1	83,255,710 (GRCm39)	missense	probably benign	0.03
R2182:Sphkap	UTSW	1	83,254,405 (GRCm39)	missense	probably damaging	1.00
R2271:Sphkap	UTSW	1	83,234,942 (GRCm39)	missense	probably damaging	1.00
R3712:Sphkap	UTSW	1	83,254,833 (GRCm39)	missense	probably benign	0.27
R3919:Sphkap	UTSW	1	83,254,179 (GRCm39)	missense	probably damaging	1.00
R3980:Sphkap	UTSW	1	83,245,215 (GRCm39)	splice site	probably null
R4130:Sphkap	UTSW	1	83,255,619 (GRCm39)	missense	probably damaging	0.96
R4602:Sphkap	UTSW	1	83,256,782 (GRCm39)	nonsense	probably null
R4735:Sphkap	UTSW	1	83,256,838 (GRCm39)	missense	probably benign	0.01
R4793:Sphkap	UTSW	1	83,255,805 (GRCm39)	missense	possibly damaging	0.77
R4849:Sphkap	UTSW	1	83,255,105 (GRCm39)	missense	probably benign	0.03
R4880:Sphkap	UTSW	1	83,266,538 (GRCm39)	missense	probably damaging	1.00
R5213:Sphkap	UTSW	1	83,258,224 (GRCm39)	missense	probably damaging	1.00
R5277:Sphkap	UTSW	1	83,253,885 (GRCm39)	missense	probably benign	0.04
R5331:Sphkap	UTSW	1	83,254,503 (GRCm39)	missense	probably benign	0.08
R5632:Sphkap	UTSW	1	83,256,006 (GRCm39)	missense	probably benign	0.01
R5647:Sphkap	UTSW	1	83,385,720 (GRCm39)	missense	probably damaging	0.98
R5751:Sphkap	UTSW	1	83,253,618 (GRCm39)	missense	probably benign	0.27
R5935:Sphkap	UTSW	1	83,317,320 (GRCm39)	missense	probably damaging	1.00
R5999:Sphkap	UTSW	1	83,245,126 (GRCm39)	missense	probably benign	0.02
R6232:Sphkap	UTSW	1	83,258,200 (GRCm39)	missense	probably damaging	1.00
R6318:Sphkap	UTSW	1	83,256,099 (GRCm39)	missense	probably damaging	1.00
R6474:Sphkap	UTSW	1	83,256,544 (GRCm39)	missense	probably damaging	1.00
R6602:Sphkap	UTSW	1	83,253,479 (GRCm39)	missense	possibly damaging	0.75
R6674:Sphkap	UTSW	1	83,255,555 (GRCm39)	missense	probably benign	0.37
R6716:Sphkap	UTSW	1	83,339,949 (GRCm39)	critical splice donor site	probably null
R6803:Sphkap	UTSW	1	83,258,231 (GRCm39)	missense	probably damaging	1.00
R6880:Sphkap	UTSW	1	83,234,978 (GRCm39)	missense	probably damaging	1.00
R6941:Sphkap	UTSW	1	83,385,811 (GRCm39)	start gained	probably benign
R7170:Sphkap	UTSW	1	83,243,706 (GRCm39)	missense	probably damaging	0.99
R7263:Sphkap	UTSW	1	83,254,399 (GRCm39)	missense	probably damaging	1.00
R7422:Sphkap	UTSW	1	83,241,547 (GRCm39)	missense	probably benign	0.02
R7640:Sphkap	UTSW	1	83,256,649 (GRCm39)	missense	possibly damaging	0.94
R7722:Sphkap	UTSW	1	83,256,642 (GRCm39)	missense	probably benign	0.00
R7810:Sphkap	UTSW	1	83,254,021 (GRCm39)	missense	probably damaging	1.00
R7887:Sphkap	UTSW	1	83,255,133 (GRCm39)	missense	probably benign	0.00
R7974:Sphkap	UTSW	1	83,256,683 (GRCm39)	missense	probably damaging	1.00
R7990:Sphkap	UTSW	1	83,245,066 (GRCm39)	missense	probably damaging	0.99
R8096:Sphkap	UTSW	1	83,255,279 (GRCm39)	missense	probably damaging	0.98
R8110:Sphkap	UTSW	1	83,256,492 (GRCm39)	missense	possibly damaging	0.82
R8125:Sphkap	UTSW	1	83,241,303 (GRCm39)	missense	probably damaging	1.00
R8153:Sphkap	UTSW	1	83,255,730 (GRCm39)	missense	possibly damaging	0.93
R8245:Sphkap	UTSW	1	83,256,492 (GRCm39)	missense	probably benign	0.14
R8394:Sphkap	UTSW	1	83,253,797 (GRCm39)	missense	probably benign	0.08
R8443:Sphkap	UTSW	1	83,255,953 (GRCm39)	missense	probably benign	0.00
R8508:Sphkap	UTSW	1	83,254,221 (GRCm39)	missense	probably damaging	1.00
R8531:Sphkap	UTSW	1	83,254,909 (GRCm39)	missense	probably damaging	1.00
R8673:Sphkap	UTSW	1	83,253,561 (GRCm39)	missense	probably benign	0.01
R8674:Sphkap	UTSW	1	83,255,565 (GRCm39)	missense	probably benign	0.04
R8682:Sphkap	UTSW	1	83,256,997 (GRCm39)	missense	probably benign	0.21
R8837:Sphkap	UTSW	1	83,253,384 (GRCm39)	missense	possibly damaging	0.87
R8857:Sphkap	UTSW	1	83,258,288 (GRCm39)	missense	probably damaging	1.00
R8902:Sphkap	UTSW	1	83,256,685 (GRCm39)	missense	probably benign	0.21
R8916:Sphkap	UTSW	1	83,255,108 (GRCm39)	missense	possibly damaging	0.87
R8944:Sphkap	UTSW	1	83,256,927 (GRCm39)	missense	probably benign	0.39
R9154:Sphkap	UTSW	1	83,234,982 (GRCm39)	missense	probably damaging	1.00
R9579:Sphkap	UTSW	1	83,255,295 (GRCm39)	missense	probably damaging	0.99
R9616:Sphkap	UTSW	1	83,254,989 (GRCm39)	missense	probably damaging	1.00
R9781:Sphkap	UTSW	1	83,255,772 (GRCm39)	missense	possibly damaging	0.62
Z1088:Sphkap	UTSW	1	83,256,325 (GRCm39)	missense	probably damaging	1.00
Z1088:Sphkap	UTSW	1	83,254,329 (GRCm39)	missense	probably damaging	1.00
Z1176:Sphkap	UTSW	1	83,258,163 (GRCm39)	missense	possibly damaging	0.61
Z1176:Sphkap	UTSW	1	83,253,754 (GRCm39)	nonsense	probably null
Z1177:Sphkap	UTSW	1	83,254,152 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCTTGGGGAATGACTTAGCAG -3'
(R):5'- CTCCGTGGATGAACTTCACC -3'

Sequencing Primer
(F):5'- TGGGGAATGACTTAGCAGTTGAATC -3'
(R):5'- GTGGATGAACTTCACCAGAAAAC -3'

Posted On

2015-08-18