Mutagenetix > Incidental Mutation

Incidental Mutation 'R6318:Sphkap'

510255

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

4930544G21Rik, A930009L15Rik, SKIP

MMRRC Submission

044473-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83254139-83408200 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83278378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 263 (Y263F)

Ref Sequence

ENSEMBL: ENSMUSP00000124384 (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: Y263F

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

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: Y263F

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: Y550F

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

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: Y550F

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

0.1344

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,393,275	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,275,348	T500A	probably benign	Het
Adcy4	T	A	14: 55,769,224	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,467,497	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,262,419	Y160*	probably null	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Armt1	T	C	10: 4,450,859	M202T	probably benign	Het
AU019823	T	C	9: 50,607,461	R284G	probably benign	Het
Brd2	C	A	17: 34,112,898	V349F	probably damaging	Het
Btnl10	A	T	11: 58,926,865		probably benign	Het
Ccdc178	A	G	18: 22,120,534	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,274,709	L142Q	unknown	Het
Cdc27	A	T	11: 104,528,694	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,814,312	I109T	probably damaging	Het
Ces5a	C	T	8: 93,534,583	G72E	probably damaging	Het
Cfb	A	G	17: 34,861,824	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,268,215	P207L	probably damaging	Het
Clec16a	G	A	16: 10,630,788	R599H	probably damaging	Het
Csmd1	A	T	8: 15,903,212	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,250,199	N243K	probably benign	Het
Ddx59	T	C	1: 136,416,872	F94L	probably damaging	Het
Dusp3	A	C	11: 101,986,871	V19G	probably benign	Het
Fat3	T	C	9: 15,916,984		probably benign	Het
Fgfr4	T	A	13: 55,166,108	V545E	probably damaging	Het
Fxn	G	T	19: 24,280,426	A47D	probably damaging	Het
Gdpgp1	A	T	7: 80,239,150	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,594,113		noncoding transcript	Het
Grm7	G	T	6: 111,358,875	C749F	probably damaging	Het
Hps4	T	G	5: 112,346,629	V26G	probably damaging	Het
Igf1r	A	G	7: 68,165,233	D294G	probably benign	Het
Immp1l	T	C	2: 105,930,827	F27S	probably benign	Het
Kcnk3	T	A	5: 30,622,586	C327S	probably damaging	Het
Kif13a	T	A	13: 46,815,207		probably null	Het
Krtap5-4	T	C	7: 142,304,090	S166P	unknown	Het
Lyst	G	A	13: 13,743,311	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,042,267	S1735A	unknown	Het
Myh4	A	G	11: 67,243,442	T308A	probably benign	Het
Myh8	A	T	11: 67,299,341	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,890,831	V1367I	probably damaging	Het
Nae1	T	C	8: 104,523,637	D208G	probably benign	Het
Nelfe	T	A	17: 34,854,456	V296D	probably damaging	Het
Npepps	A	T	11: 97,218,548	V734E	probably damaging	Het
Ogdh	A	G	11: 6,349,390	N752S	probably damaging	Het
Olfr1094	A	G	2: 86,829,654	I301V	possibly damaging	Het
Olfr266	T	C	3: 106,822,187	D124G	probably damaging	Het
Olfr401	A	T	11: 74,121,721	Q144L	possibly damaging	Het
Olfr906	T	C	9: 38,488,377	M116T	probably benign	Het
Otof	C	A	5: 30,414,544	G171V	probably damaging	Het
Phtf2	A	T	5: 20,801,941	V208D	probably damaging	Het
Pkn1	T	A	8: 83,683,591	T340S	probably damaging	Het
Plcd4	C	T	1: 74,563,594	L668F	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prss50	A	T	9: 110,861,299	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118	V604A	probably damaging	Het
Rab33b	T	C	3: 51,493,405	V100A	probably damaging	Het
Rbm26	T	A	14: 105,131,535	D736V	probably damaging	Het
Rela	C	A	19: 5,646,964	P400T	probably benign	Het
Rpusd4	T	C	9: 35,268,038	L50P	probably damaging	Het
Scn10a	A	C	9: 119,627,115	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,672,432	E179G	probably damaging	Het
Skint5	T	A	4: 113,517,133	D1253V	unknown	Het
Sp4	G	T	12: 118,238,178	P771H	probably damaging	Het
Ssbp1	G	A	6: 40,476,753	V78I	probably benign	Het
St3gal6	A	G	16: 58,486,406	I87T	probably benign	Het
Tango6	T	A	8: 106,818,497	D997E	probably benign	Het
Tpr	C	T	1: 150,445,888	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,325,677	F212Y	probably damaging	Het
Ubc	A	G	5: 125,388,260	M1T	probably null	Het
Vill	G	C	9: 119,063,648	Q376H	probably benign	Het
Yes1	T	C	5: 32,651,686	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,860,377	T830A	probably benign	Het
Zbtb41	T	A	1: 139,430,306	F451I	possibly damaging	Het
Zfp995	C	T	17: 21,880,512	C247Y	probably benign	Het

Other mutations in Sphkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sphkap	APN	1	83280516	missense	probably damaging	1.00
IGL00337:Sphkap	APN	1	83339608	missense	probably damaging	1.00
IGL00470:Sphkap	APN	1	83277910	missense	possibly damaging	0.87
IGL00577:Sphkap	APN	1	83278844	missense	probably damaging	1.00
IGL00657:Sphkap	APN	1	83276375	missense	probably damaging	1.00
IGL01868:Sphkap	APN	1	83280399	splice site	probably null
IGL02101:Sphkap	APN	1	83290987	missense	probably damaging	1.00
IGL02471:Sphkap	APN	1	83276176	missense	probably damaging	1.00
IGL02943:Sphkap	APN	1	83276831	missense	probably damaging	1.00
IGL02945:Sphkap	APN	1	83276831	missense	probably damaging	1.00
IGL03008:Sphkap	APN	1	83276831	missense	probably damaging	1.00
IGL03031:Sphkap	APN	1	83276831	missense	probably damaging	1.00
IGL03059:Sphkap	APN	1	83257242	missense	probably damaging	0.97
IGL03085:Sphkap	APN	1	83280354	missense	possibly damaging	0.92
IGL03355:Sphkap	APN	1	83280503	missense	probably damaging	1.00
IGL03356:Sphkap	APN	1	83276831	missense	probably damaging	1.00
IGL03368:Sphkap	APN	1	83275676	missense	probably benign	0.14
R0294:Sphkap	UTSW	1	83278245	missense	possibly damaging	0.72
R0308:Sphkap	UTSW	1	83276969	missense	probably damaging	1.00
R0478:Sphkap	UTSW	1	83278711	missense	probably damaging	1.00
R0606:Sphkap	UTSW	1	83280424	missense	probably damaging	1.00
R0678:Sphkap	UTSW	1	83278628	missense	probably benign	0.03
R1216:Sphkap	UTSW	1	83290977	missense	probably damaging	1.00
R1253:Sphkap	UTSW	1	83278898	missense	possibly damaging	0.56
R1532:Sphkap	UTSW	1	83257203	missense	probably damaging	1.00
R1635:Sphkap	UTSW	1	83278400	missense	probably benign	0.03
R1655:Sphkap	UTSW	1	83277515	nonsense	probably null
R1657:Sphkap	UTSW	1	83277515	nonsense	probably null
R1700:Sphkap	UTSW	1	83277515	nonsense	probably null
R1701:Sphkap	UTSW	1	83277515	nonsense	probably null
R1734:Sphkap	UTSW	1	83277515	nonsense	probably null
R1736:Sphkap	UTSW	1	83277515	nonsense	probably null
R1743:Sphkap	UTSW	1	83277515	nonsense	probably null
R1744:Sphkap	UTSW	1	83277515	nonsense	probably null
R1760:Sphkap	UTSW	1	83277544	missense	probably benign	0.29
R1893:Sphkap	UTSW	1	83278966	missense	probably benign	0.02
R1937:Sphkap	UTSW	1	83267441	nonsense	probably null
R1986:Sphkap	UTSW	1	83277922	missense	probably damaging	1.00
R1993:Sphkap	UTSW	1	83277515	nonsense	probably null
R1995:Sphkap	UTSW	1	83277515	nonsense	probably null
R2001:Sphkap	UTSW	1	83276662	missense	probably damaging	1.00
R2004:Sphkap	UTSW	1	83277911	missense	probably benign	0.04
R2111:Sphkap	UTSW	1	83275881	missense	probably benign	0.00
R2112:Sphkap	UTSW	1	83275881	missense	probably benign	0.00
R2156:Sphkap	UTSW	1	83277989	missense	probably benign	0.03
R2182:Sphkap	UTSW	1	83276684	missense	probably damaging	1.00
R2271:Sphkap	UTSW	1	83257221	missense	probably damaging	1.00
R3712:Sphkap	UTSW	1	83277112	missense	probably benign	0.27
R3919:Sphkap	UTSW	1	83276458	missense	probably damaging	1.00
R3980:Sphkap	UTSW	1	83267494	splice site	probably null
R4130:Sphkap	UTSW	1	83277898	missense	probably damaging	0.96
R4539:Sphkap	UTSW	1	83277793	missense	probably benign	0.00
R4602:Sphkap	UTSW	1	83279061	nonsense	probably null
R4735:Sphkap	UTSW	1	83279117	missense	probably benign	0.01
R4793:Sphkap	UTSW	1	83278084	missense	possibly damaging	0.77
R4849:Sphkap	UTSW	1	83277384	missense	probably benign	0.03
R4880:Sphkap	UTSW	1	83288817	missense	probably damaging	1.00
R5213:Sphkap	UTSW	1	83280503	missense	probably damaging	1.00
R5277:Sphkap	UTSW	1	83276164	missense	probably benign	0.04
R5331:Sphkap	UTSW	1	83276782	missense	probably benign	0.08
R5632:Sphkap	UTSW	1	83278285	missense	probably benign	0.01
R5647:Sphkap	UTSW	1	83407999	missense	probably damaging	0.98
R5751:Sphkap	UTSW	1	83275897	missense	probably benign	0.27
R5935:Sphkap	UTSW	1	83339599	missense	probably damaging	1.00
R5999:Sphkap	UTSW	1	83267405	missense	probably benign	0.02
R6232:Sphkap	UTSW	1	83280479	missense	probably damaging	1.00
R6474:Sphkap	UTSW	1	83278823	missense	probably damaging	1.00
R6602:Sphkap	UTSW	1	83275758	missense	possibly damaging	0.75
R6674:Sphkap	UTSW	1	83277834	missense	probably benign	0.37
R6716:Sphkap	UTSW	1	83362228	critical splice donor site	probably null
R6803:Sphkap	UTSW	1	83280510	missense	probably damaging	1.00
R6880:Sphkap	UTSW	1	83257257	missense	probably damaging	1.00
R6941:Sphkap	UTSW	1	83408090	start gained	probably benign
R7170:Sphkap	UTSW	1	83265985	missense	probably damaging	0.99
R7263:Sphkap	UTSW	1	83276678	missense	probably damaging	1.00
R7422:Sphkap	UTSW	1	83263826	missense	probably benign	0.02
R7640:Sphkap	UTSW	1	83278928	missense	possibly damaging	0.94
R7722:Sphkap	UTSW	1	83278921	missense	probably benign	0.00
R7810:Sphkap	UTSW	1	83276300	missense	probably damaging	1.00
R7887:Sphkap	UTSW	1	83277412	missense	probably benign	0.00
R7974:Sphkap	UTSW	1	83278962	missense	probably damaging	1.00
R7990:Sphkap	UTSW	1	83267345	missense	probably damaging	0.99
R8096:Sphkap	UTSW	1	83277558	missense	probably damaging	0.98
R8110:Sphkap	UTSW	1	83278771	missense	possibly damaging	0.82
R8125:Sphkap	UTSW	1	83263582	missense	probably damaging	1.00
R8153:Sphkap	UTSW	1	83278009	missense	possibly damaging	0.93
R8245:Sphkap	UTSW	1	83278771	missense	probably benign	0.14
R8394:Sphkap	UTSW	1	83276076	missense	probably benign	0.08
R8443:Sphkap	UTSW	1	83278232	missense	probably benign	0.00
R8508:Sphkap	UTSW	1	83276500	missense	probably damaging	1.00
R8531:Sphkap	UTSW	1	83277188	missense	probably damaging	1.00
R8673:Sphkap	UTSW	1	83275840	missense	probably benign	0.01
R8674:Sphkap	UTSW	1	83277844	missense	probably benign	0.04
R8682:Sphkap	UTSW	1	83279276	missense	probably benign	0.21
R8837:Sphkap	UTSW	1	83275663	missense	possibly damaging	0.87
R8857:Sphkap	UTSW	1	83280567	missense	probably damaging	1.00
R8902:Sphkap	UTSW	1	83278964	missense	probably benign	0.21
R8916:Sphkap	UTSW	1	83277387	missense	possibly damaging	0.87
R8944:Sphkap	UTSW	1	83279206	missense	probably benign	0.39
R9154:Sphkap	UTSW	1	83257261	missense	probably damaging	1.00
R9579:Sphkap	UTSW	1	83277574	missense	probably damaging	0.99
R9616:Sphkap	UTSW	1	83277268	missense	probably damaging	1.00
R9781:Sphkap	UTSW	1	83278051	missense	possibly damaging	0.62
Z1088:Sphkap	UTSW	1	83276608	missense	probably damaging	1.00
Z1088:Sphkap	UTSW	1	83278604	missense	probably damaging	1.00
Z1176:Sphkap	UTSW	1	83276033	nonsense	probably null
Z1176:Sphkap	UTSW	1	83280442	missense	possibly damaging	0.61
Z1177:Sphkap	UTSW	1	83276431	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGAGTAGCCTCTCTGAGCAG -3'
(R):5'- GTGCCCTAGAAGTTGCATTGG -3'

Sequencing Primer
(F):5'- AGAGCCTCTGCAATGGCTTC -3'
(R):5'- GCTTGTGCAGCCACTGTG -3'

Posted On

2018-04-02