Mutagenetix > Incidental Mutation

Incidental Mutation 'R5973:Spns1'

471547

Institutional Source

Beutler Lab

Gene Symbol

Spns1

Ensembl Gene

ENSMUSG00000030741

Gene Name

SPNS lysolipid transporter 1, lysophospholipid

Synonyms

2210013K02Rik, spinster homolog

MMRRC Submission

044156-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125969232-125976622 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125969495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 528 (I528N)

Ref Sequence

ENSEMBL: ENSMUSP00000032994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032994] [ENSMUST00000032997] [ENSMUST00000119754] [ENSMUST00000119846] [ENSMUST00000138141] [ENSMUST00000205930] [ENSMUST00000206793] [ENSMUST00000205642] [ENSMUST00000205366] [ENSMUST00000150476]

AlphaFold

Q8R0G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032994
AA Change: I528N

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

SMART Domains

Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: I528N

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
Pfam:Sugar_tr	60	250	4.6e-15	PFAM
Pfam:OATP	60	385	1.5e-9	PFAM
Pfam:MFS_1	65	435	1.8e-34	PFAM
transmembrane domain	462	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000032997

SMART Domains

Protein: ENSMUSP00000032997
Gene: ENSMUSG00000030742

Domain	Start	End	E-Value	Type
Pfam:LAT	1	242	4.3e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119754

SMART Domains

Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
Pfam:OATP	58	147	1.2e-8	PFAM
Pfam:Sugar_tr	60	250	1.3e-14	PFAM
Pfam:MFS_1	65	430	2.4e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119846
AA Change: I476N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: I476N

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
Pfam:OATP	58	147	1.4e-8	PFAM
Pfam:Sugar_tr	60	250	1.5e-14	PFAM
Pfam:MFS_1	65	433	2.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137263

Predicted Effect

probably benign
Transcript: ENSMUST00000138141

SMART Domains

Protein: ENSMUSP00000117803
Gene: ENSMUSG00000030741

Domain	Start	End	E-Value	Type
low complexity region	14	34	N/A	INTRINSIC
Pfam:OATP	58	151	1.4e-9	PFAM
Pfam:MFS_1	65	149	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184637

Predicted Effect

probably benign
Transcript: ENSMUST00000205930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152000

Predicted Effect

probably benign
Transcript: ENSMUST00000206793

Predicted Effect

probably benign
Transcript: ENSMUST00000205642

Predicted Effect

probably benign
Transcript: ENSMUST00000205366

Predicted Effect

probably benign
Transcript: ENSMUST00000150476

SMART Domains

Protein: ENSMUSP00000115152
Gene: ENSMUSG00000030741

Domain	Start	End	E-Value	Type
Pfam:OATP	28	120	1.3e-8	PFAM
Pfam:Sugar_tr	28	220	1.6e-15	PFAM
Pfam:MFS_1	35	237	2.4e-31	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation results in lethality before weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,364,928 (GRCm39)	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,741,162 (GRCm39)	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc7	A	T	5: 122,566,366 (GRCm39)	T92S	probably benign	Het
Ash2l	G	A	8: 26,307,642 (GRCm39)	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,243,931 (GRCm39)	F1495L	probably damaging	Het
Atp5pf	T	C	16: 84,625,328 (GRCm39)		probably null	Het
Bcl2a1c	A	G	9: 114,159,465 (GRCm39)	N81S	probably benign	Het
Bfsp2	A	C	9: 103,309,856 (GRCm39)		probably null	Het
Casq1	A	G	1: 172,047,068 (GRCm39)	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,590,262 (GRCm39)	V227A	probably damaging	Het
Cers6	T	A	2: 68,898,969 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,686,671 (GRCm39)		probably benign	Het
Clpb	G	A	7: 101,313,204 (GRCm39)	V63I	probably benign	Het
Dnah11	G	T	12: 118,074,687 (GRCm39)	D1388E	probably benign	Het
Dst	T	C	1: 34,195,938 (GRCm39)	L405P	probably damaging	Het
Dstyk	A	G	1: 132,362,149 (GRCm39)	E193G	probably damaging	Het
Dusp2	A	T	2: 127,179,208 (GRCm39)	S188C	probably damaging	Het
Ep400	T	C	5: 110,877,697 (GRCm39)	I810V	unknown	Het
Faim2	C	T	15: 99,419,132 (GRCm39)	G79D	probably benign	Het
Fpgt	A	T	3: 154,793,040 (GRCm39)	I329K	probably damaging	Het
Fut8	A	G	12: 77,411,771 (GRCm39)	T78A	probably benign	Het
Gm15130	A	G	2: 110,965,714 (GRCm39)		probably benign	Het
Gm17087	A	C	17: 8,785,529 (GRCm39)	I58R	probably benign	Het
Grk2	T	C	19: 4,337,925 (GRCm39)	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,439,568 (GRCm39)	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,310,335 (GRCm39)	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,161 (GRCm39)	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,345,806 (GRCm39)	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,427,306 (GRCm39)	V192M	probably damaging	Het
Krt1c	T	C	15: 101,724,747 (GRCm39)	K288E	probably damaging	Het
Lyar	A	G	5: 38,385,290 (GRCm39)	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,726,961 (GRCm39)	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,690,533 (GRCm39)	D40G	probably benign	Het
Maml2	A	C	9: 13,532,915 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,162,401 (GRCm39)	H69R	probably benign	Het
Morc2b	G	T	17: 33,356,446 (GRCm39)	A442E	probably damaging	Het
Moxd2	A	T	6: 40,855,744 (GRCm39)	L615Q	probably damaging	Het
Msh2	G	A	17: 88,016,011 (GRCm39)	G548S	probably damaging	Het
Napg	G	A	18: 63,128,054 (GRCm39)	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,240,136 (GRCm39)		probably null	Het
Nkiras2	G	T	11: 100,516,866 (GRCm39)	R128L	probably damaging	Het
Npy4r	T	C	14: 33,868,664 (GRCm39)	D208G	probably benign	Het
Or10ak11	C	T	4: 118,687,413 (GRCm39)	V75I	probably benign	Het
Or52e2	A	G	7: 102,804,081 (GRCm39)	V291A	possibly damaging	Het
Or8b42	G	T	9: 38,341,627 (GRCm39)	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,560 (GRCm39)	T184A	probably benign	Het
Plxna4	T	C	6: 32,228,000 (GRCm39)		probably null	Het
Pnldc1	C	T	17: 13,113,260 (GRCm39)	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334 (GRCm39)	L55F	probably damaging	Het
Pramel51	T	C	12: 88,142,683 (GRCm39)	I312V	probably benign	Het
Prkci	G	T	3: 31,092,605 (GRCm39)	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,435,038 (GRCm39)	H563R	probably damaging	Het
Ptpru	T	C	4: 131,546,236 (GRCm39)	N266S	probably benign	Het
Rapgef6	A	T	11: 54,530,609 (GRCm39)	I589F	probably damaging	Het
Rcan3	A	T	4: 135,145,853 (GRCm39)	S127T	probably benign	Het
Sh3tc2	A	G	18: 62,110,975 (GRCm39)	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,098,949 (GRCm39)	A440V	probably benign	Het
Slc13a2	A	C	11: 78,291,358 (GRCm39)	I372S	probably damaging	Het
Slco1a7	T	A	6: 141,700,182 (GRCm39)	T117S	probably benign	Het
Sult6b2	T	C	6: 142,736,021 (GRCm39)	K191R	probably benign	Het
Swt1	A	G	1: 151,278,700 (GRCm39)		probably null	Het
Tcn2	A	T	11: 3,877,546 (GRCm39)	L34*	probably null	Het
Tmem131l	C	T	3: 83,829,553 (GRCm39)	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,223,263 (GRCm39)	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,254,642 (GRCm39)	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,455,192 (GRCm39)	V48G	possibly damaging	Het
Vps39	A	T	2: 120,159,186 (GRCm39)	H367Q	probably damaging	Het
Wars2	A	G	3: 99,094,962 (GRCm39)	T86A	probably benign	Het
Wdr90	A	G	17: 26,064,107 (GRCm39)	S1872P	probably damaging	Het
Wdr90	A	G	17: 26,065,381 (GRCm39)	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,194,256 (GRCm39)	M46L	probably damaging	Het
Zfp1005	A	G	2: 150,109,855 (GRCm39)	T182A	unknown	Het

Other mutations in Spns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Spns1	APN	7	125,970,414 (GRCm39)	splice site	probably null
IGL02353:Spns1	APN	7	125,974,312 (GRCm39)	missense	probably damaging	1.00
IGL02561:Spns1	APN	7	125,972,941 (GRCm39)	critical splice donor site	probably null
IGL03403:Spns1	APN	7	125,970,708 (GRCm39)	splice site	probably null
R1634:Spns1	UTSW	7	125,970,343 (GRCm39)	unclassified	probably benign
R2327:Spns1	UTSW	7	125,969,958 (GRCm39)	missense	probably damaging	1.00
R3552:Spns1	UTSW	7	125,969,543 (GRCm39)	missense	possibly damaging	0.94
R3916:Spns1	UTSW	7	125,970,711 (GRCm39)	critical splice donor site	probably null
R4025:Spns1	UTSW	7	125,976,118 (GRCm39)	nonsense	probably null
R4095:Spns1	UTSW	7	125,969,958 (GRCm39)	missense	probably damaging	1.00
R4656:Spns1	UTSW	7	125,973,474 (GRCm39)	unclassified	probably benign
R4657:Spns1	UTSW	7	125,973,474 (GRCm39)	unclassified	probably benign
R4697:Spns1	UTSW	7	125,976,209 (GRCm39)	missense	probably damaging	1.00
R4758:Spns1	UTSW	7	125,969,966 (GRCm39)	missense	probably damaging	1.00
R5062:Spns1	UTSW	7	125,973,501 (GRCm39)	unclassified	probably benign
R5371:Spns1	UTSW	7	125,972,936 (GRCm39)	unclassified	probably benign
R5700:Spns1	UTSW	7	125,971,641 (GRCm39)	missense	possibly damaging	0.95
R5985:Spns1	UTSW	7	125,975,902 (GRCm39)	missense	probably benign	0.37
R6660:Spns1	UTSW	7	125,974,237 (GRCm39)	critical splice donor site	probably null
R7175:Spns1	UTSW	7	125,972,961 (GRCm39)	missense	probably damaging	0.98
R7937:Spns1	UTSW	7	125,973,226 (GRCm39)	missense	probably damaging	0.99
R8051:Spns1	UTSW	7	125,971,708 (GRCm39)	missense	probably benign	0.37
R8815:Spns1	UTSW	7	125,971,593 (GRCm39)	missense	possibly damaging	0.87
R8816:Spns1	UTSW	7	125,971,593 (GRCm39)	missense	possibly damaging	0.87
R8835:Spns1	UTSW	7	125,971,593 (GRCm39)	missense	possibly damaging	0.87
R8836:Spns1	UTSW	7	125,971,593 (GRCm39)	missense	possibly damaging	0.87
R8837:Spns1	UTSW	7	125,971,593 (GRCm39)	missense	possibly damaging	0.87
R9311:Spns1	UTSW	7	125,972,995 (GRCm39)	missense	probably damaging	1.00
Z1177:Spns1	UTSW	7	125,971,583 (GRCm39)	critical splice donor site	probably null
Z1177:Spns1	UTSW	7	125,971,582 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGGGCTGTCCTAGTAGAGAG -3'
(R):5'- AGTTCTGAGGGCTCTCCATG -3'

Sequencing Primer
(F):5'- TCCTAGTAGAGAGGACACCCC -3'
(R):5'- ATGCTGCCTCATCTGGGC -3'

Posted On

2017-03-31