Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Spns1'

309740

Institutional Source

Beutler Lab

Gene Symbol

Spns1

Ensembl Gene

ENSMUSG00000030741

Gene Name

spinster homolog 1

Synonyms

2210013K02Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126370060-126377450 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 126371539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112954 (fasta)

Gene Model

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

AlphaFold

Q8R0G7

Predicted Effect

probably null
Transcript: ENSMUST00000032994

SMART Domains

Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741

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 null
Transcript: ENSMUST00000032994

SMART Domains

Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741

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 null
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 null
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 null
Transcript: ENSMUST00000119846

SMART Domains

Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741

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

probably null
Transcript: ENSMUST00000119846

SMART Domains

Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184637

Predicted Effect

probably benign
Transcript: ENSMUST00000205366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205398

Predicted Effect

probably benign
Transcript: ENSMUST00000205642

Predicted Effect

probably benign
Transcript: ENSMUST00000206793

Predicted Effect

probably benign
Transcript: ENSMUST00000205930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het

Other mutations in Spns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Spns1	APN	7	126371242	splice site	probably null
IGL02353:Spns1	APN	7	126375140	missense	probably damaging	1.00
IGL02561:Spns1	APN	7	126373769	critical splice donor site	probably null
IGL03403:Spns1	APN	7	126371536	splice site	probably null
R1634:Spns1	UTSW	7	126371171	unclassified	probably benign
R2327:Spns1	UTSW	7	126370786	missense	probably damaging	1.00
R3552:Spns1	UTSW	7	126370371	missense	possibly damaging	0.94
R4025:Spns1	UTSW	7	126376946	nonsense	probably null
R4095:Spns1	UTSW	7	126370786	missense	probably damaging	1.00
R4656:Spns1	UTSW	7	126374302	unclassified	probably benign
R4657:Spns1	UTSW	7	126374302	unclassified	probably benign
R4697:Spns1	UTSW	7	126377037	missense	probably damaging	1.00
R4758:Spns1	UTSW	7	126370794	missense	probably damaging	1.00
R5062:Spns1	UTSW	7	126374329	unclassified	probably benign
R5371:Spns1	UTSW	7	126373764	unclassified	probably benign
R5700:Spns1	UTSW	7	126372469	missense	possibly damaging	0.95
R5973:Spns1	UTSW	7	126370323	missense	probably damaging	1.00
R5985:Spns1	UTSW	7	126376730	missense	probably benign	0.37
R6660:Spns1	UTSW	7	126375065	critical splice donor site	probably null
R7175:Spns1	UTSW	7	126373789	missense	probably damaging	0.98
R7937:Spns1	UTSW	7	126374054	missense	probably damaging	0.99
R8051:Spns1	UTSW	7	126372536	missense	probably benign	0.37
R8815:Spns1	UTSW	7	126372421	missense	possibly damaging	0.87
R8816:Spns1	UTSW	7	126372421	missense	possibly damaging	0.87
R8835:Spns1	UTSW	7	126372421	missense	possibly damaging	0.87
R8836:Spns1	UTSW	7	126372421	missense	possibly damaging	0.87
R8837:Spns1	UTSW	7	126372421	missense	possibly damaging	0.87
R9311:Spns1	UTSW	7	126373823	missense	probably damaging	1.00
Z1177:Spns1	UTSW	7	126372410	critical splice donor site	probably null
Z1177:Spns1	UTSW	7	126372411	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCACTCAGGTTAAGGGCTG -3'
(R):5'- AACGTCATGTGCAGGGTCAG -3'

Sequencing Primer
(F):5'- CTCAGGTTAAGGGCTGGCAGAC -3'
(R):5'- GGTGGAATGCCTCCTTTCAAAC -3'

Posted On

2015-04-17