Mutagenetix > Incidental Mutation

Incidental Mutation 'R4207:Spns3'

318981

Institutional Source

Beutler Lab

Gene Symbol

Spns3

Ensembl Gene

ENSMUSG00000020798

Gene Name

spinster homolog 3

Synonyms

9830002I17Rik

MMRRC Submission

041036-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4207 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72494919-72550506 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72538361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 199 (V199E)

Ref Sequence

ENSEMBL: ENSMUSP00000090617 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021154] [ENSMUST00000092940]

AlphaFold

Q9D232

Predicted Effect

probably damaging
Transcript: ENSMUST00000021154
AA Change: V177E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021154
Gene: ENSMUSG00000020798
AA Change: V177E

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
Pfam:MFS_1	47	402	2.4e-28	PFAM
Pfam:Sugar_tr	48	225	3.3e-9	PFAM
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000092940
AA Change: V199E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090617
Gene: ENSMUSG00000020798
AA Change: V199E

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
Pfam:Sugar_tr	44	248	1.5e-11	PFAM
Pfam:OATP	50	388	4.8e-9	PFAM
Pfam:MFS_1	55	425	4.2e-35	PFAM
transmembrane domain	450	472	N/A	INTRINSIC

Meta Mutation Damage Score

0.7631

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Acap2	T	A	16: 31,119,427	N293I	probably damaging	Het
Adgrg4	G	A	X: 56,918,749	V1893I	possibly damaging	Het
Aff1	T	C	5: 103,818,988		probably null	Het
Ap1b1	A	G	11: 5,031,637	D515G	probably damaging	Het
Brk1	T	C	6: 113,615,844	Y63H	possibly damaging	Het
Cand1	T	C	10: 119,211,845	D580G	probably damaging	Het
Casp4	A	G	9: 5,328,451	D311G	probably benign	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ctnnd2	G	T	15: 30,972,827	V1033F	probably damaging	Het
Dhx29	G	T	13: 112,927,949	A53S	probably benign	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Efl1	T	C	7: 82,750,816	V592A	probably damaging	Het
Elovl7	A	T	13: 108,282,506	Q224L	possibly damaging	Het
Fcgr3	T	A	1: 171,054,075	K160N	probably benign	Het
Flg	A	G	3: 93,279,862	Y207C	probably benign	Het
Fmn2	A	G	1: 174,581,955	T585A	unknown	Het
Gm7135	T	C	1: 97,469,895		noncoding transcript	Het
Gm8104	G	T	14: 43,101,634	D94Y	probably damaging	Het
Hjurp	G	C	1: 88,277,215		probably benign	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Kbtbd4	T	C	2: 90,909,755	F495L	probably damaging	Het
Lingo2	T	C	4: 35,709,810	I57V	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Mthfsd	A	G	8: 121,105,626	V133A	probably damaging	Het
Nav2	T	A	7: 49,572,298		probably null	Het
Nav2	T	A	7: 49,597,231	I2168N	probably damaging	Het
Nlrp10	T	A	7: 108,924,341	D644V	possibly damaging	Het
Olfr1472	T	C	19: 13,454,471	I15M	probably benign	Het
Olfr148	A	G	9: 39,613,957	Y130C	possibly damaging	Het
Olfr15	T	C	16: 3,839,570	L199P	probably damaging	Het
Oplah	C	T	15: 76,302,710	R635H	probably damaging	Het
Peli1	A	G	11: 21,147,115		probably null	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Pld5	T	G	1: 175,993,875	T242P	probably damaging	Het
Rbm5	A	G	9: 107,750,483	S420P	probably benign	Het
Rhag	A	T	17: 40,831,653	I250F	probably damaging	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Scaf4	C	T	16: 90,260,215	V83I	unknown	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Slc5a8	G	T	10: 88,911,413	L409F	probably damaging	Het
Sspo	A	G	6: 48,478,293	T3030A	probably benign	Het
Sstr2	A	C	11: 113,624,656	T134P	probably damaging	Het
Stk39	G	T	2: 68,220,920	T527K	probably benign	Het
Sult2a1	T	A	7: 13,801,547	T194S	probably benign	Het
Tamm41	AGGG	AGG	6: 115,012,359		probably benign	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Umodl1	G	A	17: 30,959,367	V106I	probably damaging	Het
Vmn2r85	A	C	10: 130,418,705	C703W	probably damaging	Het
Vmn2r92	G	A	17: 18,184,261	V556M	possibly damaging	Het
Zfp292	T	C	4: 34,806,079	I2322V	probably benign	Het
Zfp644	T	C	5: 106,618,276	E93G	probably damaging	Het
Zfp81	C	T	17: 33,334,916	C308Y	probably damaging	Het

Other mutations in Spns3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00822:Spns3	APN	11	72499353	critical splice donor site	probably null
IGL02731:Spns3	APN	11	72529577	missense	probably damaging	1.00
IGL03400:Spns3	APN	11	72499675	missense	possibly damaging	0.65
R0948:Spns3	UTSW	11	72545940	missense	probably damaging	1.00
R1807:Spns3	UTSW	11	72538340	nonsense	probably null
R2151:Spns3	UTSW	11	72545961	splice site	probably benign
R2393:Spns3	UTSW	11	72550233	start gained	probably benign
R3703:Spns3	UTSW	11	72499530	splice site	probably benign
R4685:Spns3	UTSW	11	72537270	missense	probably damaging	1.00
R4932:Spns3	UTSW	11	72499495	missense	possibly damaging	0.47
R5009:Spns3	UTSW	11	72537201	missense	probably damaging	1.00
R5041:Spns3	UTSW	11	72536547	missense	possibly damaging	0.46
R5997:Spns3	UTSW	11	72539078	missense	probably damaging	1.00
R6179:Spns3	UTSW	11	72499523	missense	probably damaging	1.00
R6277:Spns3	UTSW	11	72529640	missense	possibly damaging	0.75
R7635:Spns3	UTSW	11	72539034	critical splice donor site	probably null
R8312:Spns3	UTSW	11	72499708	missense	probably damaging	1.00
R8881:Spns3	UTSW	11	72539086	missense	probably damaging	0.99
R8979:Spns3	UTSW	11	72529590	missense	probably damaging	0.98
X0017:Spns3	UTSW	11	72505065	missense	possibly damaging	0.53
Z1176:Spns3	UTSW	11	72529582	nonsense	probably null
Z1176:Spns3	UTSW	11	72536654	missense	probably damaging	1.00
Z1176:Spns3	UTSW	11	72545890	missense	probably damaging	1.00
Z1186:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1186:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1186:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1187:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1187:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1187:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1188:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1188:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1188:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1189:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1189:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1189:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1190:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1190:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1190:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1191:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1191:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1191:Spns3	UTSW	11	72550160	missense	probably benign	0.02
Z1192:Spns3	UTSW	11	72550037	missense	probably benign	0.00
Z1192:Spns3	UTSW	11	72550091	missense	probably benign	0.00
Z1192:Spns3	UTSW	11	72550160	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGGCTAGCCTGGAATTTTCTC -3'
(R):5'- GCACAAAACTTAACCTTTCTTGGGG -3'

Sequencing Primer
(F):5'- CAGAGCAGTTGGAATTTGACCTC -3'
(R):5'- GAATGGGCTCAGAGGCTGC -3'

Posted On

2015-06-10