Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00577:Sphkap'

7426

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00577

Quality Score

Status

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83256565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 395 (S395P)

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 damaging
Transcript: ENSMUST00000159078
AA Change: S108P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: S108P

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 damaging
Transcript: ENSMUST00000160953
AA Change: S395P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: S395P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang6	T	A	14: 44,239,458 (GRCm39)	Y90F	probably benign	Het
Arhgef6	T	A	X: 56,290,992 (GRCm39)		probably null	Het
Ccdc88a	A	G	11: 29,374,772 (GRCm39)	E115G	probably damaging	Het
Ceacam12	T	A	7: 17,801,186 (GRCm39)	V55E	probably damaging	Het
Depdc1a	A	T	3: 159,228,375 (GRCm39)	R376*	probably null	Het
Dop1a	A	T	9: 86,402,999 (GRCm39)	I1398F	probably damaging	Het
Eif2s1	T	G	12: 78,913,420 (GRCm39)	N40K	possibly damaging	Het
Epb41	T	A	4: 131,702,042 (GRCm39)	H531L	probably benign	Het
Frrs1	T	A	3: 116,696,049 (GRCm39)	W523R	probably damaging	Het
Gpatch8	T	C	11: 102,369,704 (GRCm39)	D1278G	probably damaging	Het
Mybpc1	C	T	10: 88,372,246 (GRCm39)	A795T	probably damaging	Het
Nrdc	T	C	4: 108,903,884 (GRCm39)		probably benign	Het
Os9	C	T	10: 126,933,845 (GRCm39)	R524K	probably benign	Het
Pisd	T	C	5: 32,895,756 (GRCm39)	I441V	probably benign	Het
Plekha5	T	A	6: 140,515,822 (GRCm39)		probably benign	Het
Prnp	A	G	2: 131,779,031 (GRCm39)	R228G	probably benign	Het
Prrc2c	G	A	1: 162,525,685 (GRCm39)	P307L	unknown	Het
Prss1	T	C	6: 41,439,645 (GRCm39)	V126A	possibly damaging	Het
Ptpn21	G	A	12: 98,699,860 (GRCm39)	S18F	probably damaging	Het
Setdb1	T	C	3: 95,245,888 (GRCm39)	D678G	probably damaging	Het
Sltm	G	T	9: 70,486,624 (GRCm39)	V430L	probably damaging	Het
Tas2r119	T	C	15: 32,177,599 (GRCm39)	I55T	probably damaging	Het
Tmc3	A	C	7: 83,252,682 (GRCm39)	E361A	probably null	Het
Uggt2	A	T	14: 119,272,312 (GRCm39)	S922T	possibly damaging	Het
Znhit1	A	T	5: 137,011,437 (GRCm39)	Y125*	probably null	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
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
R4539:Sphkap	UTSW	1	83,255,514 (GRCm39)	missense	probably benign	0.00
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

Posted On

2012-04-20