Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Sphkap'

199695

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

SKIP, A930009L15Rik, 4930544G21Rik

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

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

Stock #

R1736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83255236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 838 (R838*)

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 null
Transcript: ENSMUST00000159078
AA Change: R551*

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163
AA Change: R551*

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 null
Transcript: ENSMUST00000160953
AA Change: R838*

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163
AA Change: R838*

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

0.9755

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npas1	G	T	7: 16,208,541 (GRCm39)	A112D	probably benign	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	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
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

Predicted Primers

PCR Primer
(F):5'- ATAGACCTCGGACTGCTTTGCCTC -3'
(R):5'- AGCCAGCCTCTTAGCAATGCAC -3'

Sequencing Primer
(F):5'- TCTAGAGTAGACTGAGCAGGAAC -3'
(R):5'- ACTGGCCTTGTCATCAGGAATC -3'

Posted On

2014-05-23