Mutagenetix > Incidental Mutation

Incidental Mutation 'R7735:Spata17'

596173

Institutional Source

Beutler Lab

Gene Symbol

Spata17

Ensembl Gene

ENSMUSG00000026611

Gene Name

spermatogenesis associated 17

Synonyms

4930513F16Rik, 4930504I07Rik, 1700065F16Rik

MMRRC Submission

045791-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R7735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

186776845-186947662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 186872577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 31 (T31I)

Ref Sequence

ENSEMBL: ENSMUSP00000139009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027908] [ENSMUST00000110945] [ENSMUST00000183819] [ENSMUST00000183931] [ENSMUST00000183996] [ENSMUST00000184543]

AlphaFold

Q9D552

Predicted Effect

probably damaging
Transcript: ENSMUST00000027908
AA Change: T187I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: T187I

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 damaging
Transcript: ENSMUST00000110945
AA Change: T187I

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

SMART Domains

Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
AA Change: T187I

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 damaging
Transcript: ENSMUST00000183819
AA Change: T187I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: T187I

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 damaging
Transcript: ENSMUST00000183931
AA Change: T78I

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

SMART Domains

Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: T78I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183996
AA Change: T31I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: T31I

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000184543
AA Change: T31I

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,655,629 (GRCm39)	T617A	probably benign	Het
Agl	A	T	3: 116,578,795 (GRCm39)	I446N	probably benign	Het
Aox1	C	T	1: 58,107,451 (GRCm39)	P575L	probably benign	Het
Ap2m1	A	T	16: 20,358,269 (GRCm39)	I96F	probably benign	Het
Arhgap15	A	G	2: 44,006,642 (GRCm39)	D253G	probably damaging	Het
Arsa	A	T	15: 89,359,152 (GRCm39)	C171*	probably null	Het
Arsb	G	T	13: 93,908,491 (GRCm39)	R69L	probably benign	Het
Asb13	G	A	13: 3,684,180 (GRCm39)		probably null	Het
Canx	G	T	11: 50,191,866 (GRCm39)	D348E	probably damaging	Het
Cebpz	C	T	17: 79,233,342 (GRCm39)		probably null	Het
Ces2h	A	T	8: 105,741,127 (GRCm39)	I40L	probably benign	Het
Cfhr4	A	G	1: 139,660,039 (GRCm39)		probably null	Het
Csmd2	T	C	4: 128,350,723 (GRCm39)		probably null	Het
Cxadr	T	A	16: 78,125,949 (GRCm39)	N106K	possibly damaging	Het
Ddo	T	C	10: 40,507,770 (GRCm39)	C56R	probably benign	Het
Dnah6	C	T	6: 73,046,412 (GRCm39)	G3192D	probably damaging	Het
Efcab3	T	A	11: 104,962,465 (GRCm39)	V49E	probably benign	Het
Epha10	T	C	4: 124,807,472 (GRCm39)	Y578H		Het
Fbxw16	T	C	9: 109,270,135 (GRCm39)	D202G	probably damaging	Het
Gzf1	T	C	2: 148,530,083 (GRCm39)	V538A	possibly damaging	Het
Igha	T	A	12: 113,220,019 (GRCm39)		probably benign	Het
Iqce	G	T	5: 140,663,839 (GRCm39)	Q457K	probably benign	Het
Kbtbd3	A	G	9: 4,330,846 (GRCm39)	K407E	possibly damaging	Het
Lipt1	A	G	1: 37,914,703 (GRCm39)	E253G	probably damaging	Het
Mrnip	G	A	11: 50,087,800 (GRCm39)	W107*	probably null	Het
Mroh4	T	C	15: 74,497,357 (GRCm39)	T224A	probably damaging	Het
Ncoa2	A	T	1: 13,218,661 (GRCm39)	S1389R	probably benign	Het
Npffr2	A	G	5: 89,731,173 (GRCm39)	I368V	probably benign	Het
Nrdc	C	T	4: 108,895,182 (GRCm39)	L469F	probably damaging	Het
Nup210l	A	T	3: 90,092,883 (GRCm39)	Q1279L	probably damaging	Het
Or4k47	T	A	2: 111,451,819 (GRCm39)	N200I	probably damaging	Het
Or7e170	A	G	9: 19,795,410 (GRCm39)	Y64H	probably damaging	Het
Pcdha4	T	G	18: 37,085,961 (GRCm39)	I48S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,101 (GRCm39)	Y211C	possibly damaging	Het
Prrt4	A	T	6: 29,170,035 (GRCm39)	S806T	possibly damaging	Het
Ptpn20	T	A	14: 33,352,902 (GRCm39)	Y214N	probably damaging	Het
Ptprt	A	T	2: 161,417,661 (GRCm39)	N938K	probably damaging	Het
Scn2a	G	T	2: 65,594,013 (GRCm39)	V1621L	probably benign	Het
Senp3	A	G	11: 69,569,087 (GRCm39)	I358T	probably damaging	Het
Sf3b1	A	T	1: 55,042,508 (GRCm39)	S461T	probably benign	Het
Slc22a2	C	T	17: 12,828,917 (GRCm39)	T341I	probably damaging	Het
Slc38a7	A	T	8: 96,568,295 (GRCm39)	D363E	probably benign	Het
Slc6a5	T	C	7: 49,598,090 (GRCm39)		probably null	Het
Smo	T	A	6: 29,759,851 (GRCm39)	V650E	probably damaging	Het
Sstr2	T	A	11: 113,515,423 (GRCm39)	I114N	possibly damaging	Het
Styxl1	T	C	5: 135,788,023 (GRCm39)	Y146C	probably damaging	Het
Synpo2l	T	C	14: 20,711,243 (GRCm39)	Q688R	possibly damaging	Het
Tmem245	C	T	4: 56,925,155 (GRCm39)	R322H	probably benign	Het
Tnxb	A	G	17: 34,890,398 (GRCm39)	E247G	unknown	Het
Ttc28	A	T	5: 111,414,544 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,718,416 (GRCm39)	I7255N	unknown	Het
Ttn	C	A	2: 76,652,768 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,165,791 (GRCm39)	R204C	probably damaging	Het
Utrn	A	G	10: 12,619,787 (GRCm39)		probably null	Het
Vps53	A	T	11: 75,937,962 (GRCm39)	F753I	probably damaging	Het
Ypel1	G	T	16: 16,918,124 (GRCm39)	S97R	probably benign	Het
Zdbf2	A	G	1: 63,343,264 (GRCm39)	T548A	possibly damaging	Het
Zfp747	G	A	7: 126,973,672 (GRCm39)	T166M	probably damaging	Het

Other mutations in Spata17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Spata17	APN	1	186,849,536 (GRCm39)	missense	probably benign	0.34
IGL02101:Spata17	APN	1	186,849,657 (GRCm39)	missense	probably benign	0.40
IGL02268:Spata17	APN	1	186,872,595 (GRCm39)	missense	probably damaging	0.97
IGL02406:Spata17	APN	1	186,849,458 (GRCm39)	critical splice donor site	probably null
IGL02429:Spata17	APN	1	186,872,631 (GRCm39)	missense	possibly damaging	0.66
IGL03333:Spata17	APN	1	186,872,667 (GRCm39)	start codon destroyed	probably null
R0147:Spata17	UTSW	1	186,844,798 (GRCm39)	missense	probably damaging	1.00
R0148:Spata17	UTSW	1	186,844,798 (GRCm39)	missense	probably damaging	1.00
R0269:Spata17	UTSW	1	186,830,069 (GRCm39)	missense	probably benign	0.02
R1521:Spata17	UTSW	1	186,926,191 (GRCm39)	missense	probably damaging	0.96
R1620:Spata17	UTSW	1	186,915,412 (GRCm39)	intron	probably benign
R2017:Spata17	UTSW	1	186,780,650 (GRCm39)	missense	possibly damaging	0.73
R2113:Spata17	UTSW	1	186,830,108 (GRCm39)	missense	possibly damaging	0.93
R2251:Spata17	UTSW	1	186,780,670 (GRCm39)	missense	possibly damaging	0.96
R4260:Spata17	UTSW	1	186,780,677 (GRCm39)	missense	possibly damaging	0.53
R4572:Spata17	UTSW	1	186,926,193 (GRCm39)	missense	possibly damaging	0.91
R4894:Spata17	UTSW	1	186,872,643 (GRCm39)	missense	probably benign	0.00
R4910:Spata17	UTSW	1	186,926,208 (GRCm39)	missense	probably damaging	0.98
R6277:Spata17	UTSW	1	186,926,151 (GRCm39)	nonsense	probably null
R7200:Spata17	UTSW	1	186,844,700 (GRCm39)	missense	probably benign	0.00
R7621:Spata17	UTSW	1	186,854,833 (GRCm39)	splice site	probably null
R7990:Spata17	UTSW	1	186,872,592 (GRCm39)	missense	unknown
R8115:Spata17	UTSW	1	186,849,653 (GRCm39)	missense	probably damaging	1.00
R8833:Spata17	UTSW	1	186,915,436 (GRCm39)	missense	probably damaging	1.00
R9288:Spata17	UTSW	1	186,844,756 (GRCm39)	missense	possibly damaging	0.85
R9481:Spata17	UTSW	1	186,844,756 (GRCm39)	missense	possibly damaging	0.85
R9588:Spata17	UTSW	1	186,849,471 (GRCm39)	missense	possibly damaging	0.91
V7732:Spata17	UTSW	1	186,780,677 (GRCm39)	missense	possibly damaging	0.53
X0027:Spata17	UTSW	1	186,926,156 (GRCm39)	missense	probably damaging	0.97
Z1177:Spata17	UTSW	1	186,872,626 (GRCm39)	nonsense	probably null
Z1177:Spata17	UTSW	1	186,849,525 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- CTTGGACCTTTCTGCCAGTG -3'
(R):5'- GAATTAGCGAATCAACAGATGCC -3'

Sequencing Primer
(F):5'- TCTATGAAGCACTGTCACAGG -3'
(R):5'- TTAGCGAATCAACAGATGCCAACAG -3'

Posted On

2019-11-26