Mutagenetix > Incidental Mutations

Incidental Mutation 'R7565:Spata13'

585401

Institutional Source

Beutler Lab

Gene Symbol

Spata13

Ensembl Gene

ENSMUSG00000021990

Gene Name

spermatogenesis associated 13

Synonyms

ESTM11

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60634001-60764556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60751849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 988 (Y988F)

Ref Sequence

ENSEMBL: ENSMUSP00000123928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022566] [ENSMUST00000160973] [ENSMUST00000162945]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022566
AA Change: Y988F

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

SMART Domains

Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: Y988F

Domain	Start	End	E-Value	Type
low complexity region	307	320	N/A	INTRINSIC
low complexity region	354	370	N/A	INTRINSIC
low complexity region	426	450	N/A	INTRINSIC
low complexity region	453	462	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	571	584	N/A	INTRINSIC
low complexity region	604	623	N/A	INTRINSIC
SH3	742	797	4.92e-16	SMART
RhoGEF	836	1015	1.22e-58	SMART
PH	1048	1155	1.16e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160973
AA Change: Y988F

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

SMART Domains

Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: Y988F

Domain	Start	End	E-Value	Type
low complexity region	307	320	N/A	INTRINSIC
low complexity region	354	370	N/A	INTRINSIC
low complexity region	426	450	N/A	INTRINSIC
low complexity region	453	462	N/A	INTRINSIC
low complexity region	540	557	N/A	INTRINSIC
low complexity region	571	584	N/A	INTRINSIC
low complexity region	604	623	N/A	INTRINSIC
SH3	742	797	4.92e-16	SMART
RhoGEF	836	1015	1.22e-58	SMART
PH	1048	1155	1.16e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162131

SMART Domains

Protein: ENSMUSP00000124586
Gene: ENSMUSG00000021990

Domain	Start	End	E-Value	Type
low complexity region	16	33	N/A	INTRINSIC
low complexity region	47	60	N/A	INTRINSIC
low complexity region	80	99	N/A	INTRINSIC
SH3	208	263	4.92e-16	SMART
Blast:RhoGEF	302	340	7e-19	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000162945
AA Change: Y318F

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

SMART Domains

Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: Y318F

Domain	Start	End	E-Value	Type
SH3	72	127	4.92e-16	SMART
RhoGEF	166	345	1.22e-58	SMART
PH	378	485	1.16e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal but show a significant reduction in the number and size of intestinal adenomas in conjunction with Apc^Min heterozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,748,345	M101L	probably benign	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	Het

Other mutations in Spata13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02364:Spata13	APN	14	60691274	missense	probably damaging	1.00
IGL02455:Spata13	APN	14	60706714	missense	probably benign	0.01
IGL03189:Spata13	APN	14	60691614	missense	possibly damaging	0.71
IGL03235:Spata13	APN	14	60751792	missense	probably damaging	1.00
PIT4378001:Spata13	UTSW	14	60749996	missense	probably damaging	1.00
R0278:Spata13	UTSW	14	60692088	missense	probably benign	0.02
R0316:Spata13	UTSW	14	60692339	missense	probably benign
R0458:Spata13	UTSW	14	60692043	missense	probably damaging	0.98
R1546:Spata13	UTSW	14	60756408	missense	probably damaging	1.00
R1780:Spata13	UTSW	14	60691725	missense	probably damaging	0.96
R1791:Spata13	UTSW	14	60709459	missense	probably damaging	1.00
R1970:Spata13	UTSW	14	60691463	missense	probably damaging	0.99
R2059:Spata13	UTSW	14	60759591	missense	possibly damaging	0.79
R2063:Spata13	UTSW	14	60760871	critical splice acceptor site	probably benign
R2068:Spata13	UTSW	14	60760871	critical splice acceptor site	probably benign
R2212:Spata13	UTSW	14	60706723	missense	probably benign	0.00
R2327:Spata13	UTSW	14	60709555	missense	probably damaging	0.98
R3414:Spata13	UTSW	14	60706723	missense	probably benign	0.00
R4115:Spata13	UTSW	14	60692478	missense	probably damaging	1.00
R4276:Spata13	UTSW	14	60756296	missense	probably damaging	1.00
R4289:Spata13	UTSW	14	60691074	missense	probably damaging	1.00
R4291:Spata13	UTSW	14	60709555	missense	probably damaging	0.98
R4293:Spata13	UTSW	14	60709555	missense	probably damaging	0.98
R4294:Spata13	UTSW	14	60709555	missense	probably damaging	0.98
R4295:Spata13	UTSW	14	60709555	missense	probably damaging	0.98
R4779:Spata13	UTSW	14	60753907	nonsense	probably null
R4780:Spata13	UTSW	14	60753907	nonsense	probably null
R4838:Spata13	UTSW	14	60733179	missense	probably benign	0.17
R4997:Spata13	UTSW	14	60709459	missense	probably damaging	1.00
R5066:Spata13	UTSW	14	60750089	missense	possibly damaging	0.78
R5399:Spata13	UTSW	14	60747541	missense	probably benign	0.00
R5685:Spata13	UTSW	14	60691203	missense	probably benign	0.00
R5708:Spata13	UTSW	14	60692003	missense	probably damaging	1.00
R5747:Spata13	UTSW	14	60747503	missense	probably benign	0.00
R6073:Spata13	UTSW	14	60750021	missense	probably damaging	1.00
R6135:Spata13	UTSW	14	60756428	missense	probably damaging	0.98
R6233:Spata13	UTSW	14	60692007	missense	probably benign	0.06
R6782:Spata13	UTSW	14	60691463	missense	probably damaging	0.99
R6873:Spata13	UTSW	14	60691957	missense	probably benign
R6958:Spata13	UTSW	14	60751851	missense	possibly damaging	0.94
R7105:Spata13	UTSW	14	60753870	missense	probably damaging	0.97
R7286:Spata13	UTSW	14	60756422	missense	probably damaging	1.00
R7512:Spata13	UTSW	14	60751777	missense	probably damaging	1.00
R7608:Spata13	UTSW	14	60692507	missense	possibly damaging	0.50
R7743:Spata13	UTSW	14	60756249	missense	probably damaging	0.99
R7795:Spata13	UTSW	14	60691842	missense	possibly damaging	0.92
R7959:Spata13	UTSW	14	60756230	nonsense	probably null
R8073:Spata13	UTSW	14	60691256	missense	probably damaging	1.00
R8304:Spata13	UTSW	14	60756508	missense	possibly damaging	0.77
R8791:Spata13	UTSW	14	60691826	missense	probably damaging	1.00
R8889:Spata13	UTSW	14	60756581	missense	probably benign	0.00
R8893:Spata13	UTSW	14	60750075	missense	probably damaging	1.00
R8987:Spata13	UTSW	14	60756447	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CGCCATCTACTCTGAGTACTGC -3'
(R):5'- AAGCTCAGAGGCAGTGTAGC -3'

Sequencing Primer
(F):5'- TCTACTCTGAGTACTGCAACAAC -3'
(R):5'- GCAATGCTGCCACATTACC -3'

Posted On

2019-10-17