Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Spata17'

293033

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata17

Ensembl Gene

ENSMUSG00000026611

Gene Name

spermatogenesis associated 17

Synonyms

4930513F16Rik, 4930504I07Rik, 1700065F16Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

186776845-186947662 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 186872631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 60 (R60L)

Ref Sequence

ENSEMBL: ENSMUSP00000139329 (fasta)

Gene Model

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

AlphaFold

Q9D552

Predicted Effect

probably benign
Transcript: ENSMUST00000027908
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027908
Gene: ENSMUSG00000026611
AA Change: R169L

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
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106570
Gene: ENSMUSG00000026611
AA Change: R169L

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

noncoding transcript
Transcript: ENSMUST00000183656

Predicted Effect

probably benign
Transcript: ENSMUST00000183819
AA Change: R169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138855
Gene: ENSMUSG00000026611
AA Change: R169L

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

possibly damaging
Transcript: ENSMUST00000183931
AA Change: R60L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000139329
Gene: ENSMUSG00000026611
AA Change: R60L

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

Predicted Effect

unknown
Transcript: ENSMUST00000183996
AA Change: R13L

SMART Domains

Protein: ENSMUSP00000139073
Gene: ENSMUSG00000026611
AA Change: R13L

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

Predicted Effect

unknown
Transcript: ENSMUST00000184543
AA Change: R13L

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly 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
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
R7735:Spata17	UTSW	1	186,872,577 (GRCm39)	missense	unknown
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

Posted On

2015-04-16