Mutagenetix > Incidental Mutation

Incidental Mutation 'R7722:Sphkap'

595257

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

SKIP, A930009L15Rik, 4930544G21Rik

MMRRC Submission

045778-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7722 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83256642 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 369 (D369G)

Ref Sequence

ENSEMBL: ENSMUSP00000124872 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159078
AA Change: D82G

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

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: D82G

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: D369G

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

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: D369G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,029,231 (GRCm39)	E151G	probably benign	Het
Alpk2	A	T	18: 65,483,228 (GRCm39)	L260H	probably damaging	Het
Amh	T	C	10: 80,642,458 (GRCm39)	V247A	probably benign	Het
Ank2	T	A	3: 126,822,951 (GRCm39)	I431L	probably benign	Het
Ano7	G	A	1: 93,318,145 (GRCm39)	A286T	probably damaging	Het
Atp8a1	T	A	5: 67,780,041 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,613,762 (GRCm39)	S378T	probably damaging	Het
Clrn1	T	A	3: 58,753,755 (GRCm39)	N202I	possibly damaging	Het
Cspp1	T	C	1: 10,145,126 (GRCm39)	V308A	probably benign	Het
Cyp2a5	T	C	7: 26,536,543 (GRCm39)	L174P	probably benign	Het
Ehbp1	G	A	11: 22,039,572 (GRCm39)	H843Y	probably null	Het
Fancm	T	A	12: 65,153,235 (GRCm39)	D1230E	probably damaging	Het
Fbxl17	A	T	17: 63,663,823 (GRCm39)	N555K	probably damaging	Het
Fmnl2	A	C	2: 52,944,479 (GRCm39)	S153R		Het
Fras1	G	A	5: 96,917,413 (GRCm39)	V3478M	probably damaging	Het
Gnptab	T	C	10: 88,215,390 (GRCm39)	F37S	probably damaging	Het
Gpr183	T	G	14: 122,192,270 (GRCm39)	I84L	probably damaging	Het
Hcn1	A	G	13: 118,039,314 (GRCm39)	H410R	unknown	Het
Hmcn1	A	G	1: 150,543,631 (GRCm39)	V2848A	probably damaging	Het
Hmcn2	A	T	2: 31,272,512 (GRCm39)	R1331*	probably null	Het
Hsd17b4	A	C	18: 50,279,591 (GRCm39)	N190T	probably damaging	Het
Itprid2	T	C	2: 79,492,689 (GRCm39)	S1079P	probably damaging	Het
Kif14	A	G	1: 136,396,033 (GRCm39)	D113G	probably benign	Het
Kmt2e	T	G	5: 23,702,016 (GRCm39)	D881E	probably benign	Het
Lamb1	T	A	12: 31,373,570 (GRCm39)	L1481Q	probably damaging	Het
Limk2	T	C	11: 3,306,092 (GRCm39)		probably null	Het
Luc7l2	T	A	6: 38,580,243 (GRCm39)	S281T	unknown	Het
Map3k5	A	G	10: 20,007,891 (GRCm39)	D1240G	probably benign	Het
Med13l	C	A	5: 118,885,472 (GRCm39)	T1475K	probably benign	Het
Med17	G	T	9: 15,182,987 (GRCm39)	Q353K	probably benign	Het
Mlh3	A	G	12: 85,314,266 (GRCm39)	V640A	probably benign	Het
Mms22l	T	A	4: 24,517,201 (GRCm39)	Y361N	probably damaging	Het
Mtmr2	T	A	9: 13,716,104 (GRCm39)	N532K	probably benign	Het
Mtss1	G	A	15: 58,926,935 (GRCm39)	T47I	probably damaging	Het
Mturn	T	C	6: 54,676,545 (GRCm39)		probably null	Het
Muc20	A	C	16: 32,617,756 (GRCm39)	S3A	probably benign	Het
Nde1	T	C	16: 14,008,128 (GRCm39)	Y164H	unknown	Het
Neurl1b	A	G	17: 26,660,132 (GRCm39)	T451A	probably benign	Het
Or52u1	C	A	7: 104,237,505 (GRCm39)	Q165K	possibly damaging	Het
Or8g18	A	T	9: 39,148,885 (GRCm39)	Y278*	probably null	Het
Pgap3	G	A	11: 98,281,610 (GRCm39)	A196V	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scart1	C	A	7: 139,802,299 (GRCm39)	C209*	probably null	Het
Sdcbp	T	A	4: 6,385,063 (GRCm39)	V94E	possibly damaging	Het
Sgo2a	T	G	1: 58,055,696 (GRCm39)	F627V	probably benign	Het
Skor2	A	C	18: 76,950,339 (GRCm39)	N889T	probably benign	Het
Slc35f4	A	T	14: 49,543,731 (GRCm39)	N288K	probably benign	Het
Slc9b2	T	A	3: 135,035,596 (GRCm39)	V355E	probably null	Het
Smarcc2	A	G	10: 128,317,597 (GRCm39)	E566G	possibly damaging	Het
Sorcs2	T	C	5: 36,200,871 (GRCm39)	E559G	probably damaging	Het
Stc1	T	A	14: 69,269,729 (GRCm39)	I103N	possibly damaging	Het
Stx8	T	C	11: 68,094,544 (GRCm39)	V219A	probably damaging	Het
Tg	C	T	15: 66,636,158 (GRCm39)	R582C	possibly damaging	Het
Tshz2	T	A	2: 169,727,192 (GRCm39)	L596Q	probably benign	Het
Tti1	A	G	2: 157,849,527 (GRCm39)	Y571H	probably benign	Het
Zbtb40	A	G	4: 136,718,829 (GRCm39)	I956T	probably damaging	Het
Zfp990	A	C	4: 145,263,532 (GRCm39)	N177H	possibly damaging	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
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
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'- TTTGTGCAACAGCCACTGGG -3'
(R):5'- GTTTAGTCAGGCCATCACACC -3'

Sequencing Primer
(F):5'- CCACTGGGAAGGAGAGCACTTC -3'
(R):5'- CCATCACACCTGAAAAGTGAAGTGG -3'

Posted On

2019-11-12