Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Spns1'

355779

Institutional Source

Beutler Lab

Gene Symbol

Spns1

Ensembl Gene

ENSMUSG00000030741

Gene Name

spinster homolog 1

Synonyms

2210013K02Rik

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126370060-126377450 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126377037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 14 (D14V)

Ref Sequence

ENSEMBL: ENSMUSP00000117803 (fasta)

Gene Model

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

AlphaFold

Q8R0G7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032994
AA Change: D14V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032994
Gene: ENSMUSG00000030741
AA Change: D14V

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 damaging
Transcript: ENSMUST00000119754
AA Change: D14V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112555
Gene: ENSMUSG00000030741
AA Change: D14V

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: D14V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112954
Gene: ENSMUSG00000030741
AA Change: D14V

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 damaging
Transcript: ENSMUST00000138141
AA Change: D14V

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

SMART Domains

Protein: ENSMUSP00000117803
Gene: ENSMUSG00000030741
AA Change: D14V

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

probably damaging
Transcript: ENSMUST00000205366
AA Change: D14V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206094

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206377

Meta Mutation Damage Score

0.0943

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

MGI Phenotype

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

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448 (GRCm38)	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284 (GRCm38)	M1T	probably null	Het
Aatf	T	A	11: 84,449,138 (GRCm38)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944 (GRCm38)		probably benign	Het
BC005561	A	G	5: 104,522,240 (GRCm38)	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484 (GRCm38)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749 (GRCm38)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485 (GRCm38)	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753 (GRCm38)	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684 (GRCm38)	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919 (GRCm38)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487 (GRCm38)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408 (GRCm38)		probably null	Het
Ear-ps2	G	A	14: 44,047,060 (GRCm38)		noncoding transcript	Het
Ednra	T	C	8: 77,664,995 (GRCm38)	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640 (GRCm38)	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558 (GRCm38)		probably benign	Het
Gata5	A	T	2: 180,327,379 (GRCm38)	C345*	probably null	Het
Glmp	T	C	3: 88,328,274 (GRCm38)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550 (GRCm38)		noncoding transcript	Het
Gnas	A	T	2: 174,298,080 (GRCm38)	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329 (GRCm38)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466 (GRCm38)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187 (GRCm38)	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694 (GRCm38)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846 (GRCm38)	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734 (GRCm38)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147 (GRCm38)	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326 (GRCm38)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777 (GRCm38)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361 (GRCm38)	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322 (GRCm38)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386 (GRCm38)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521 (GRCm38)	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902 (GRCm38)	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903 (GRCm38)	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934 (GRCm38)	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717 (GRCm38)	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868 (GRCm38)	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208 (GRCm38)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241 (GRCm38)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347 (GRCm38)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071 (GRCm38)	N484K	probably damaging	Het
Prkd3	C	T	17: 78,961,171 (GRCm38)	V572I	probably benign	Het
Qser1	T	C	2: 104,787,183 (GRCm38)	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801 (GRCm38)	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942 (GRCm38)	R352*	probably null	Het
Sacs	T	C	14: 61,212,747 (GRCm38)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085 (GRCm38)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587 (GRCm38)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284 (GRCm38)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641 (GRCm38)	P71L	probably benign	Het
Sv2c	T	A	13: 95,986,018 (GRCm38)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516 (GRCm38)	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681 (GRCm38)	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461 (GRCm38)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791 (GRCm38)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030 (GRCm38)		probably null	Het
Txndc11	C	T	16: 11,084,314 (GRCm38)	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964 (GRCm38)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452 (GRCm38)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826 (GRCm38)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960 (GRCm38)	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363 (GRCm38)	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661 (GRCm38)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942 (GRCm38)		noncoding transcript	Het

Other mutations in Spns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Spns1	APN	7	126,371,242 (GRCm38)	splice site	probably null
IGL02353:Spns1	APN	7	126,375,140 (GRCm38)	missense	probably damaging	1.00
IGL02561:Spns1	APN	7	126,373,769 (GRCm38)	critical splice donor site	probably null
IGL03403:Spns1	APN	7	126,371,536 (GRCm38)	splice site	probably null
R1634:Spns1	UTSW	7	126,371,171 (GRCm38)	unclassified	probably benign
R2327:Spns1	UTSW	7	126,370,786 (GRCm38)	missense	probably damaging	1.00
R3552:Spns1	UTSW	7	126,370,371 (GRCm38)	missense	possibly damaging	0.94
R3916:Spns1	UTSW	7	126,371,539 (GRCm38)	critical splice donor site	probably null
R4025:Spns1	UTSW	7	126,376,946 (GRCm38)	nonsense	probably null
R4095:Spns1	UTSW	7	126,370,786 (GRCm38)	missense	probably damaging	1.00
R4656:Spns1	UTSW	7	126,374,302 (GRCm38)	unclassified	probably benign
R4657:Spns1	UTSW	7	126,374,302 (GRCm38)	unclassified	probably benign
R4758:Spns1	UTSW	7	126,370,794 (GRCm38)	missense	probably damaging	1.00
R5062:Spns1	UTSW	7	126,374,329 (GRCm38)	unclassified	probably benign
R5371:Spns1	UTSW	7	126,373,764 (GRCm38)	unclassified	probably benign
R5700:Spns1	UTSW	7	126,372,469 (GRCm38)	missense	possibly damaging	0.95
R5973:Spns1	UTSW	7	126,370,323 (GRCm38)	missense	probably damaging	1.00
R5985:Spns1	UTSW	7	126,376,730 (GRCm38)	missense	probably benign	0.37
R6660:Spns1	UTSW	7	126,375,065 (GRCm38)	critical splice donor site	probably null
R7175:Spns1	UTSW	7	126,373,789 (GRCm38)	missense	probably damaging	0.98
R7937:Spns1	UTSW	7	126,374,054 (GRCm38)	missense	probably damaging	0.99
R8051:Spns1	UTSW	7	126,372,536 (GRCm38)	missense	probably benign	0.37
R8815:Spns1	UTSW	7	126,372,421 (GRCm38)	missense	possibly damaging	0.87
R8816:Spns1	UTSW	7	126,372,421 (GRCm38)	missense	possibly damaging	0.87
R8835:Spns1	UTSW	7	126,372,421 (GRCm38)	missense	possibly damaging	0.87
R8836:Spns1	UTSW	7	126,372,421 (GRCm38)	missense	possibly damaging	0.87
R8837:Spns1	UTSW	7	126,372,421 (GRCm38)	missense	possibly damaging	0.87
R9311:Spns1	UTSW	7	126,373,823 (GRCm38)	missense	probably damaging	1.00
Z1177:Spns1	UTSW	7	126,372,411 (GRCm38)	critical splice donor site	probably null
Z1177:Spns1	UTSW	7	126,372,410 (GRCm38)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGTGAAGCGGTCCATGTAGTTC -3'
(R):5'- TCTGTCGGAACCAGAGGGAATG -3'

Sequencing Primer
(F):5'- TAGTTCAGGAGGTTAATGTAGCAC -3'
(R):5'- CCAGGGCTTTTCGCAGTG -3'

Posted On

2015-10-21