Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Sphkap'

311225

Institutional Source

Beutler Lab

Gene Symbol

Sphkap

Ensembl Gene

ENSMUSG00000026163

Gene Name

SPHK1 interactor, AKAP domain containing

Synonyms

SKIP, A930009L15Rik, 4930544G21Rik

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

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

Stock #

R3980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83233163-83385853 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 83245215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000124384
Gene: ENSMUSG00000026163

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

SMART Domains

Protein: ENSMUSP00000124872
Gene: ENSMUSG00000026163

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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	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
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'- GAAAGCTGCTTGTGTCGTC -3'
(R):5'- TGATAAACACCACTGTATCCCCATG -3'

Sequencing Primer
(F):5'- CTGGGATGTCCTCCTCATTGG -3'
(R):5'- ATCCCCATGATTCTTTTCAACATAC -3'

Posted On

2015-04-29