Mutagenetix > Incidental Mutation

Incidental Mutation 'R7990:Sphkap'

651659

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

SKIP, A930009L15Rik, 4930544G21Rik

MMRRC Submission

046031-MU

Accession Numbers

Essential gene?

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

Stock #

R7990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83245066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1518 (D1518N)

Ref Sequence

ENSEMBL: ENSMUSP00000124872 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000159078
AA Change: D1231N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: D1231N

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: D1518N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: D1518N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,970,549 (GRCm39)	V28I	probably damaging	Het
Abcd4	G	T	12: 84,651,162 (GRCm39)		probably null	Het
Alg2	T	C	4: 47,472,308 (GRCm39)	T167A	probably damaging	Het
Asap1	T	C	15: 64,044,586 (GRCm39)		probably null	Het
Atad5	T	A	11: 80,024,079 (GRCm39)	C1730*	probably null	Het
Atp8b1	T	C	18: 64,671,748 (GRCm39)	T1092A	possibly damaging	Het
C130050O18Rik	A	G	5: 139,400,672 (GRCm39)	T242A	probably benign	Het
Ccdc88c	A	G	12: 100,934,244 (GRCm39)	V211A	probably damaging	Het
Ccnl1	A	G	3: 65,854,314 (GRCm39)	S436P	possibly damaging	Het
Cgnl1	T	C	9: 71,632,547 (GRCm39)	E268G	probably damaging	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Col6a3	T	G	1: 90,709,577 (GRCm39)	K2480T	unknown	Het
Cryba1	T	C	11: 77,614,411 (GRCm39)	T21A	possibly damaging	Het
Csn1s1	C	T	5: 87,827,912 (GRCm39)	A259V	possibly damaging	Het
Dap3	A	C	3: 88,835,814 (GRCm39)	Y206*	probably null	Het
Etnppl	T	C	3: 130,424,308 (GRCm39)	I360T	possibly damaging	Het
Gal3st3	A	T	19: 5,352,617 (GRCm39)	M15L	probably benign	Het
Gdf5	A	G	2: 155,783,749 (GRCm39)	V401A	probably damaging	Het
Gm1110	A	G	9: 26,792,137 (GRCm39)	S628P	possibly damaging	Het
Gm9493	A	T	19: 23,597,397 (GRCm39)	I98F	possibly damaging	Het
Grin2a	T	C	16: 9,397,040 (GRCm39)	K1016E	possibly damaging	Het
Hdac9	T	C	12: 34,265,452 (GRCm39)	N850D	probably benign	Het
Itsn2	C	A	12: 4,685,629 (GRCm39)	L466I	unknown	Het
Jkampl	T	C	6: 73,446,528 (GRCm39)	Y7C	probably damaging	Het
Kcnj16	C	A	11: 110,915,886 (GRCm39)	R183S	probably damaging	Het
Kcnk2	A	C	1: 188,942,102 (GRCm39)	L389R	probably damaging	Het
Kdm4c	A	C	4: 74,309,685 (GRCm39)	K949N	probably damaging	Het
Kif3b	G	A	2: 153,159,383 (GRCm39)	E395K	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Map3k1	A	T	13: 111,892,696 (GRCm39)	M853K	probably benign	Het
Metap1	T	G	3: 138,186,526 (GRCm39)	T68P	probably benign	Het
Mfsd11	T	C	11: 116,750,323 (GRCm39)	V114A	possibly damaging	Het
Mroh1	G	A	15: 76,336,475 (GRCm39)	R1566H	probably damaging	Het
Msh4	A	T	3: 153,602,529 (GRCm39)	M233K	probably damaging	Het
Ncor1	T	G	11: 62,240,321 (GRCm39)		probably null	Het
Npl	A	T	1: 153,413,230 (GRCm39)	V29D	possibly damaging	Het
Or1e29	C	T	11: 73,667,497 (GRCm39)	V219I	probably benign	Het
Osmr	T	C	15: 6,881,948 (GRCm39)	I65M	possibly damaging	Het
Rabepk	C	T	2: 34,670,720 (GRCm39)	V247I	probably benign	Het
Rere	C	T	4: 150,699,327 (GRCm39)	P804S	unknown	Het
Rpgrip1	A	T	14: 52,366,975 (GRCm39)	Y265F	possibly damaging	Het
Slc10a1	T	C	12: 81,000,554 (GRCm39)	D315G	probably benign	Het
Smc5	A	T	19: 23,213,246 (GRCm39)	N555K	probably benign	Het
Spata17	T	A	1: 186,872,592 (GRCm39)	H26L	unknown	Het
Sult2a6	A	T	7: 13,959,795 (GRCm39)	M246K	possibly damaging	Het
Tmx2	A	G	2: 84,506,480 (GRCm39)	F71L	probably damaging	Het
Ush2a	T	A	1: 188,274,996 (GRCm39)	L1823Q	probably benign	Het
Virma	T	A	4: 11,513,983 (GRCm39)	D612E	probably benign	Het
Wdfy4	A	T	14: 32,819,752 (GRCm39)	L1484Q		Het
Zan	A	G	5: 137,391,352 (GRCm39)	S4711P	unknown	Het
Zdhhc1	A	G	8: 106,203,001 (GRCm39)		probably null	Het
Zfp971	C	T	2: 177,675,361 (GRCm39)	T320I	probably 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
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
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'- ATGGCCAACTGGGAGCTTAC -3'
(R):5'- GCGAACAGCTCTATATTGTACCTCC -3'

Sequencing Primer
(F):5'- GGGAGCTTACCCCCTTGTTTTTG -3'
(R):5'- CCTCTCTTGATAATAATGCCTTGATG -3'

Posted On

2020-09-15