Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Sphkap'

189618

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

4930544G21Rik, A930009L15Rik, SKIP

MMRRC Submission

039733-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83254139-83408200 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83277515 bp (GRCm38)

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,849,537 (GRCm38)	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,057 (GRCm38)	I211N	probably benign	Het
Adamts16	G	A	13: 70,779,518 (GRCm38)		probably benign	Het
Alas1	C	T	9: 106,239,646 (GRCm38)	V293I	possibly damaging	Het
Ap1g1	T	C	8: 109,853,612 (GRCm38)	Y569H	probably damaging	Het
Apc2	A	G	10: 80,312,769 (GRCm38)	D1190G	probably damaging	Het
Astn2	G	A	4: 65,746,354 (GRCm38)	Q679*	probably null	Het
Atp2a1	T	A	7: 126,462,909 (GRCm38)	H5L	probably damaging	Het
Baiap3	T	C	17: 25,249,328 (GRCm38)	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,316,612 (GRCm38)	P111S	probably benign	Het
C7	T	A	15: 5,002,792 (GRCm38)	K646*	probably null	Het
Ccp110	C	T	7: 118,735,313 (GRCm38)	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,170,796 (GRCm38)	D123G	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Clip1	A	G	5: 123,630,370 (GRCm38)	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,702,075 (GRCm38)	F174S	probably benign	Het
Ctnna3	T	C	10: 63,852,772 (GRCm38)	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,347,855 (GRCm38)	N76K	probably damaging	Het
Dnaaf9	G	A	2: 130,709,938 (GRCm38)	L1010F	probably damaging	Het
Dnaja3	G	A	16: 4,684,165 (GRCm38)	R11K	probably null	Het
Efcab10	A	G	12: 33,395,171 (GRCm38)	T28A	possibly damaging	Het
Esrrg	A	G	1: 188,043,653 (GRCm38)	R103G	probably damaging	Het
Exosc2	A	G	2: 31,670,806 (GRCm38)	K23E	probably benign	Het
Flot2	C	T	11: 78,049,547 (GRCm38)	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,991,737 (GRCm38)	V5938A	probably benign	Het
Gclc	A	G	9: 77,776,289 (GRCm38)	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,624 (GRCm38)	V407A	probably benign	Het
Gucy2e	A	T	11: 69,232,058 (GRCm38)	M497K	probably benign	Het
Herc1	T	A	9: 66,450,678 (GRCm38)		probably null	Het
Hnrnpll	A	C	17: 80,034,105 (GRCm38)	S502A	probably benign	Het
Ipo11	G	T	13: 106,795,662 (GRCm38)	T975N	probably benign	Het
Kif17	C	T	4: 138,262,698 (GRCm38)	Q66*	probably null	Het
Lrp10	T	C	14: 54,469,752 (GRCm38)	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,678 (GRCm38)	L75Q	probably damaging	Het
Med16	A	T	10: 79,899,335 (GRCm38)	Y430N	probably benign	Het
Med8	C	T	4: 118,412,734 (GRCm38)	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,536,375 (GRCm38)	T253A	probably damaging	Het
Myf6	T	C	10: 107,493,359 (GRCm38)	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,343 (GRCm38)	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,199,993 (GRCm38)	Y48N	probably damaging	Het
Or12e10	T	C	2: 87,810,768 (GRCm38)	V316A	probably benign	Het
Or51q1c	T	A	7: 104,004,122 (GRCm38)	Y282*	probably null	Het
Or5as1	T	G	2: 87,149,779 (GRCm38)	N294T	probably damaging	Het
Pde4dip	T	C	3: 97,703,323 (GRCm38)	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,434,481 (GRCm38)	L2P	probably damaging	Het
Piezo1	C	T	8: 122,487,502 (GRCm38)	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,357,008 (GRCm38)	M213K	probably damaging	Het
Polr1b	A	G	2: 129,123,121 (GRCm38)	N709S	probably damaging	Het
Pramel1	T	A	4: 143,398,429 (GRCm38)	W308R	probably damaging	Het
Prkag2	A	T	5: 24,871,541 (GRCm38)	I208N	probably damaging	Het
Ptpro	T	A	6: 137,443,594 (GRCm38)	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864 (GRCm38)	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,415,533 (GRCm38)	*345Q	probably null	Het
Rrp1b	A	G	17: 32,057,204 (GRCm38)	K575R	probably benign	Het
Shd	G	A	17: 55,974,307 (GRCm38)	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,992,376 (GRCm38)	N749K	possibly damaging	Het
Sorbs2	T	A	8: 45,800,984 (GRCm38)	V488D	probably damaging	Het
Srsf4	C	A	4: 131,900,560 (GRCm38)		probably benign	Het
Strn	T	C	17: 78,692,402 (GRCm38)	Y135C	probably damaging	Het
Synm	T	C	7: 67,759,628 (GRCm38)	M1V	probably null	Het
Tas1r3	T	G	4: 155,861,570 (GRCm38)	Q489P	probably benign	Het
Tas2r103	A	T	6: 133,036,811 (GRCm38)	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,893,792 (GRCm38)	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,221,672 (GRCm38)	E112G	probably damaging	Het
Trappc8	T	C	18: 20,832,998 (GRCm38)	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,371,743 (GRCm38)		probably benign	Het
Ubash3a	A	G	17: 31,215,044 (GRCm38)	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,252,286 (GRCm38)	I56V	possibly damaging	Het
Uri1	T	C	7: 37,963,524 (GRCm38)	I348M	probably damaging	Het
Usp21	C	A	1: 171,283,722 (GRCm38)	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,842,965 (GRCm38)	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,302,741 (GRCm38)	E93G	unknown	Het

Other mutations in Sphkap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Sphkap	APN	1	83,280,516 (GRCm38)	missense	probably damaging	1.00
IGL00337:Sphkap	APN	1	83,339,608 (GRCm38)	missense	probably damaging	1.00
IGL00470:Sphkap	APN	1	83,277,910 (GRCm38)	missense	possibly damaging	0.87
IGL00577:Sphkap	APN	1	83,278,844 (GRCm38)	missense	probably damaging	1.00
IGL00657:Sphkap	APN	1	83,276,375 (GRCm38)	missense	probably damaging	1.00
IGL01868:Sphkap	APN	1	83,280,399 (GRCm38)	splice site	probably null
IGL02101:Sphkap	APN	1	83,290,987 (GRCm38)	missense	probably damaging	1.00
IGL02471:Sphkap	APN	1	83,276,176 (GRCm38)	missense	probably damaging	1.00
IGL02943:Sphkap	APN	1	83,276,831 (GRCm38)	missense	probably damaging	1.00
IGL02945:Sphkap	APN	1	83,276,831 (GRCm38)	missense	probably damaging	1.00
IGL03008:Sphkap	APN	1	83,276,831 (GRCm38)	missense	probably damaging	1.00
IGL03031:Sphkap	APN	1	83,276,831 (GRCm38)	missense	probably damaging	1.00
IGL03059:Sphkap	APN	1	83,257,242 (GRCm38)	missense	probably damaging	0.97
IGL03085:Sphkap	APN	1	83,280,354 (GRCm38)	missense	possibly damaging	0.92
IGL03355:Sphkap	APN	1	83,280,503 (GRCm38)	missense	probably damaging	1.00
IGL03356:Sphkap	APN	1	83,276,831 (GRCm38)	missense	probably damaging	1.00
IGL03368:Sphkap	APN	1	83,275,676 (GRCm38)	missense	probably benign	0.14
R0294:Sphkap	UTSW	1	83,278,245 (GRCm38)	missense	possibly damaging	0.72
R0308:Sphkap	UTSW	1	83,276,969 (GRCm38)	missense	probably damaging	1.00
R0478:Sphkap	UTSW	1	83,278,711 (GRCm38)	missense	probably damaging	1.00
R0606:Sphkap	UTSW	1	83,280,424 (GRCm38)	missense	probably damaging	1.00
R0678:Sphkap	UTSW	1	83,278,628 (GRCm38)	missense	probably benign	0.03
R1216:Sphkap	UTSW	1	83,290,977 (GRCm38)	missense	probably damaging	1.00
R1253:Sphkap	UTSW	1	83,278,898 (GRCm38)	missense	possibly damaging	0.56
R1532:Sphkap	UTSW	1	83,257,203 (GRCm38)	missense	probably damaging	1.00
R1635:Sphkap	UTSW	1	83,278,400 (GRCm38)	missense	probably benign	0.03
R1655:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1657:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1701:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1734:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1736:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1743:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1744:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1760:Sphkap	UTSW	1	83,277,544 (GRCm38)	missense	probably benign	0.29
R1893:Sphkap	UTSW	1	83,278,966 (GRCm38)	missense	probably benign	0.02
R1937:Sphkap	UTSW	1	83,267,441 (GRCm38)	nonsense	probably null
R1986:Sphkap	UTSW	1	83,277,922 (GRCm38)	missense	probably damaging	1.00
R1993:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R1995:Sphkap	UTSW	1	83,277,515 (GRCm38)	nonsense	probably null
R2001:Sphkap	UTSW	1	83,276,662 (GRCm38)	missense	probably damaging	1.00
R2004:Sphkap	UTSW	1	83,277,911 (GRCm38)	missense	probably benign	0.04
R2111:Sphkap	UTSW	1	83,275,881 (GRCm38)	missense	probably benign	0.00
R2112:Sphkap	UTSW	1	83,275,881 (GRCm38)	missense	probably benign	0.00
R2156:Sphkap	UTSW	1	83,277,989 (GRCm38)	missense	probably benign	0.03
R2182:Sphkap	UTSW	1	83,276,684 (GRCm38)	missense	probably damaging	1.00
R2271:Sphkap	UTSW	1	83,257,221 (GRCm38)	missense	probably damaging	1.00
R3712:Sphkap	UTSW	1	83,277,112 (GRCm38)	missense	probably benign	0.27
R3919:Sphkap	UTSW	1	83,276,458 (GRCm38)	missense	probably damaging	1.00
R3980:Sphkap	UTSW	1	83,267,494 (GRCm38)	splice site	probably null
R4130:Sphkap	UTSW	1	83,277,898 (GRCm38)	missense	probably damaging	0.96
R4539:Sphkap	UTSW	1	83,277,793 (GRCm38)	missense	probably benign	0.00
R4602:Sphkap	UTSW	1	83,279,061 (GRCm38)	nonsense	probably null
R4735:Sphkap	UTSW	1	83,279,117 (GRCm38)	missense	probably benign	0.01
R4793:Sphkap	UTSW	1	83,278,084 (GRCm38)	missense	possibly damaging	0.77
R4849:Sphkap	UTSW	1	83,277,384 (GRCm38)	missense	probably benign	0.03
R4880:Sphkap	UTSW	1	83,288,817 (GRCm38)	missense	probably damaging	1.00
R5213:Sphkap	UTSW	1	83,280,503 (GRCm38)	missense	probably damaging	1.00
R5277:Sphkap	UTSW	1	83,276,164 (GRCm38)	missense	probably benign	0.04
R5331:Sphkap	UTSW	1	83,276,782 (GRCm38)	missense	probably benign	0.08
R5632:Sphkap	UTSW	1	83,278,285 (GRCm38)	missense	probably benign	0.01
R5647:Sphkap	UTSW	1	83,407,999 (GRCm38)	missense	probably damaging	0.98
R5751:Sphkap	UTSW	1	83,275,897 (GRCm38)	missense	probably benign	0.27
R5935:Sphkap	UTSW	1	83,339,599 (GRCm38)	missense	probably damaging	1.00
R5999:Sphkap	UTSW	1	83,267,405 (GRCm38)	missense	probably benign	0.02
R6232:Sphkap	UTSW	1	83,280,479 (GRCm38)	missense	probably damaging	1.00
R6318:Sphkap	UTSW	1	83,278,378 (GRCm38)	missense	probably damaging	1.00
R6474:Sphkap	UTSW	1	83,278,823 (GRCm38)	missense	probably damaging	1.00
R6602:Sphkap	UTSW	1	83,275,758 (GRCm38)	missense	possibly damaging	0.75
R6674:Sphkap	UTSW	1	83,277,834 (GRCm38)	missense	probably benign	0.37
R6716:Sphkap	UTSW	1	83,362,228 (GRCm38)	critical splice donor site	probably null
R6803:Sphkap	UTSW	1	83,280,510 (GRCm38)	missense	probably damaging	1.00
R6880:Sphkap	UTSW	1	83,257,257 (GRCm38)	missense	probably damaging	1.00
R6941:Sphkap	UTSW	1	83,408,090 (GRCm38)	start gained	probably benign
R7170:Sphkap	UTSW	1	83,265,985 (GRCm38)	missense	probably damaging	0.99
R7263:Sphkap	UTSW	1	83,276,678 (GRCm38)	missense	probably damaging	1.00
R7422:Sphkap	UTSW	1	83,263,826 (GRCm38)	missense	probably benign	0.02
R7640:Sphkap	UTSW	1	83,278,928 (GRCm38)	missense	possibly damaging	0.94
R7722:Sphkap	UTSW	1	83,278,921 (GRCm38)	missense	probably benign	0.00
R7810:Sphkap	UTSW	1	83,276,300 (GRCm38)	missense	probably damaging	1.00
R7887:Sphkap	UTSW	1	83,277,412 (GRCm38)	missense	probably benign	0.00
R7974:Sphkap	UTSW	1	83,278,962 (GRCm38)	missense	probably damaging	1.00
R7990:Sphkap	UTSW	1	83,267,345 (GRCm38)	missense	probably damaging	0.99
R8096:Sphkap	UTSW	1	83,277,558 (GRCm38)	missense	probably damaging	0.98
R8110:Sphkap	UTSW	1	83,278,771 (GRCm38)	missense	possibly damaging	0.82
R8125:Sphkap	UTSW	1	83,263,582 (GRCm38)	missense	probably damaging	1.00
R8153:Sphkap	UTSW	1	83,278,009 (GRCm38)	missense	possibly damaging	0.93
R8245:Sphkap	UTSW	1	83,278,771 (GRCm38)	missense	probably benign	0.14
R8394:Sphkap	UTSW	1	83,276,076 (GRCm38)	missense	probably benign	0.08
R8443:Sphkap	UTSW	1	83,278,232 (GRCm38)	missense	probably benign	0.00
R8508:Sphkap	UTSW	1	83,276,500 (GRCm38)	missense	probably damaging	1.00
R8531:Sphkap	UTSW	1	83,277,188 (GRCm38)	missense	probably damaging	1.00
R8673:Sphkap	UTSW	1	83,275,840 (GRCm38)	missense	probably benign	0.01
R8674:Sphkap	UTSW	1	83,277,844 (GRCm38)	missense	probably benign	0.04
R8682:Sphkap	UTSW	1	83,279,276 (GRCm38)	missense	probably benign	0.21
R8837:Sphkap	UTSW	1	83,275,663 (GRCm38)	missense	possibly damaging	0.87
R8857:Sphkap	UTSW	1	83,280,567 (GRCm38)	missense	probably damaging	1.00
R8902:Sphkap	UTSW	1	83,278,964 (GRCm38)	missense	probably benign	0.21
R8916:Sphkap	UTSW	1	83,277,387 (GRCm38)	missense	possibly damaging	0.87
R8944:Sphkap	UTSW	1	83,279,206 (GRCm38)	missense	probably benign	0.39
R9154:Sphkap	UTSW	1	83,257,261 (GRCm38)	missense	probably damaging	1.00
R9579:Sphkap	UTSW	1	83,277,574 (GRCm38)	missense	probably damaging	0.99
R9616:Sphkap	UTSW	1	83,277,268 (GRCm38)	missense	probably damaging	1.00
R9781:Sphkap	UTSW	1	83,278,051 (GRCm38)	missense	possibly damaging	0.62
Z1088:Sphkap	UTSW	1	83,278,604 (GRCm38)	missense	probably damaging	1.00
Z1088:Sphkap	UTSW	1	83,276,608 (GRCm38)	missense	probably damaging	1.00
Z1176:Sphkap	UTSW	1	83,280,442 (GRCm38)	missense	possibly damaging	0.61
Z1176:Sphkap	UTSW	1	83,276,033 (GRCm38)	nonsense	probably null
Z1177:Sphkap	UTSW	1	83,276,431 (GRCm38)	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

2014-05-14