Mutagenetix > Incidental Mutations

Incidental Mutation 'R1620:Spata17'

174594

Institutional Source

Beutler Lab

Gene Symbol

Spata17

Ensembl Gene

ENSMUSG00000026611

Gene Name

spermatogenesis associated 17

Synonyms

1700065F16Rik, 4930504I07Rik, 4930513F16Rik

MMRRC Submission

039657-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

187044648-187215465 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 187183215 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027908] [ENSMUST00000110945] [ENSMUST00000183819] [ENSMUST00000183931]

Predicted Effect

probably benign
Transcript: ENSMUST00000027908

SMART Domains

Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611

Domain	Start	End	E-Value	Type
IQ	47	69	5.27e0	SMART
IQ	70	92	1.77e-2	SMART
IQ	106	128	1.4e1	SMART
coiled coil region	133	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110945

SMART Domains

Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611

Domain	Start	End	E-Value	Type
IQ	47	69	5.27e0	SMART
IQ	70	92	1.77e-2	SMART
IQ	106	128	1.4e1	SMART
coiled coil region	133	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159848

SMART Domains

Protein: ENSMUSP00000123771
Gene: ENSMUSG00000026611

Domain	Start	End	E-Value	Type
IQ	47	69	5.27e0	SMART
IQ	70	92	1.77e-2	SMART
IQ	106	128	1.4e1	SMART
coiled coil region	133	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183819

SMART Domains

Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611

Domain	Start	End	E-Value	Type
IQ	47	69	5.27e0	SMART
IQ	70	92	1.77e-2	SMART
IQ	106	128	1.4e1	SMART
coiled coil region	133	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183931

SMART Domains

Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611

Domain	Start	End	E-Value	Type
low complexity region	39	63	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 119,749,126	V586A	probably benign	Het
Atp8a2	T	A	14: 59,791,183	H945L	probably benign	Het
Bfar	G	T	16: 13,688,846	V187F	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Capn2	A	T	1: 182,517,137	I73N	probably damaging	Het
Cfc1	C	A	1: 34,536,473	A76E	possibly damaging	Het
Chl1	T	C	6: 103,690,242	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,302,701	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,749,136	Y57*	probably null	Het
Epha4	T	A	1: 77,374,926	R897S	probably benign	Het
Fscn2	A	T	11: 120,366,685	T291S	probably damaging	Het
Gga1	G	A	15: 78,888,470	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,449,128	T1287A	probably damaging	Het
Gm10037	T	C	13: 67,842,990		probably benign	Het
Gm10845	C	A	14: 79,863,229		noncoding transcript	Het
Gm11559	T	A	11: 99,865,056	L177Q	unknown	Het
Itga9	A	G	9: 118,843,502	T195A	probably benign	Het
Lama1	A	G	17: 67,767,033	T935A	probably benign	Het
Lrrk1	G	T	7: 66,381,538	T4K	probably benign	Het
Lrrn1	G	A	6: 107,568,366	C375Y	probably damaging	Het
Maip1	T	C	1: 57,409,985		probably null	Het
Mecom	A	T	3: 29,987,088	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,647,499	R69H	probably benign	Het
Muc16	A	G	9: 18,510,477	V8246A	possibly damaging	Het
Myh3	C	T	11: 67,088,736		probably benign	Het
Myocd	A	G	11: 65,196,394	S236P	probably damaging	Het
Myot	A	T	18: 44,337,058	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,418,639	D596G	probably damaging	Het
Npas2	T	C	1: 39,333,912	S415P	possibly damaging	Het
Obox2	A	G	7: 15,397,041	E66G	probably benign	Het
Olfr1312	G	T	2: 112,042,246	T262K	probably benign	Het
Pcdh9	G	A	14: 93,888,305	P143L	probably damaging	Het
Phactr1	G	T	13: 43,094,897	V356L	probably damaging	Het
Pparg	A	T	6: 115,473,281	I414L	probably benign	Het
Rapgef6	A	T	11: 54,626,594	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,954,973	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,838,149	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,826,808	I67T	possibly damaging	Het
Ston1	A	G	17: 88,635,816	T217A	probably benign	Het
Tank	A	G	2: 61,650,098	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,249,595	N594K	probably damaging	Het
Tfpi2	T	A	6: 3,965,507	T102S	probably benign	Het
Ulk4	T	G	9: 121,204,805	E589D	possibly damaging	Het
Usp40	A	T	1: 87,994,225	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,606,329	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,244,963	D250G	probably damaging	Het
Wdr6	A	T	9: 108,574,655	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,510,835	V1140E	probably damaging	Het

Other mutations in Spata17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Spata17	APN	1	187117339	missense	probably benign	0.34
IGL02101:Spata17	APN	1	187117460	missense	probably benign	0.40
IGL02268:Spata17	APN	1	187140398	missense	probably damaging	0.97
IGL02406:Spata17	APN	1	187117261	critical splice donor site	probably null
IGL02429:Spata17	APN	1	187140434	missense	possibly damaging	0.66
IGL03333:Spata17	APN	1	187140470	start codon destroyed	probably null
R0147:Spata17	UTSW	1	187112601	missense	probably damaging	1.00
R0148:Spata17	UTSW	1	187112601	missense	probably damaging	1.00
R0269:Spata17	UTSW	1	187097872	missense	probably benign	0.02
R1521:Spata17	UTSW	1	187193994	missense	probably damaging	0.96
R2017:Spata17	UTSW	1	187048453	missense	possibly damaging	0.73
R2113:Spata17	UTSW	1	187097911	missense	possibly damaging	0.93
R2251:Spata17	UTSW	1	187048473	missense	possibly damaging	0.96
R4260:Spata17	UTSW	1	187048480	missense	possibly damaging	0.53
R4572:Spata17	UTSW	1	187193996	missense	possibly damaging	0.91
R4894:Spata17	UTSW	1	187140446	missense	probably benign	0.00
R4910:Spata17	UTSW	1	187194011	missense	probably damaging	0.98
R6277:Spata17	UTSW	1	187193954	nonsense	probably null
R7200:Spata17	UTSW	1	187112503	missense	probably benign	0.00
R7621:Spata17	UTSW	1	187122636	splice site	probably null
R7735:Spata17	UTSW	1	187140380	missense	unknown
R7990:Spata17	UTSW	1	187140395	missense	unknown
R8115:Spata17	UTSW	1	187117456	missense	probably damaging	1.00
V7732:Spata17	UTSW	1	187048480	missense	possibly damaging	0.53
X0027:Spata17	UTSW	1	187193959	missense	probably damaging	0.97
Z1177:Spata17	UTSW	1	187117328	missense	possibly damaging	0.86
Z1177:Spata17	UTSW	1	187140429	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGGGCTTGGCACAGCTAACTTTC -3'
(R):5'- GCAAGGCACAATTTTGCCTCATCAC -3'

Sequencing Primer
(F):5'- GGCACAGCTAACTTTCTAACTAGTG -3'
(R):5'- ACTCAGCGGAGAGCATTTTATG -3'

Posted On

2014-04-24