Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Spata13'

197477

Institutional Source

Beutler Lab

Gene Symbol

Spata13

Ensembl Gene

ENSMUSG00000021990

Gene Name

spermatogenesis associated 13

Synonyms

ESTM11

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1780 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60634001-60764556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60691725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 244 (N244S)

Ref Sequence

ENSEMBL: ENSMUSP00000123928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022566] [ENSMUST00000159169] [ENSMUST00000159729] [ENSMUST00000160973]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000022566
AA Change: N244S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: N244S

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

noncoding transcript
Transcript: ENSMUST00000159135

Predicted Effect

probably benign
Transcript: ENSMUST00000159169

Predicted Effect

probably benign
Transcript: ENSMUST00000159729

Predicted Effect

probably benign
Transcript: ENSMUST00000160095

SMART Domains

Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	100	124	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	186	201	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000160973
AA Change: N244S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: N244S

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

Meta Mutation Damage Score

0.0731

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cpa1	C	T	6: 30,643,008	L312F	probably damaging	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	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
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
R7565:Spata13	UTSW	14	60751849	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
R9513:Spata13	UTSW	14	60692400	missense	probably benign	0.01
R9548:Spata13	UTSW	14	60753854	missense	possibly damaging	0.94
R9624:Spata13	UTSW	14	60706900	missense	probably benign	0.17
R9625:Spata13	UTSW	14	60706900	missense	probably benign	0.17
R9626:Spata13	UTSW	14	60706900	missense	probably benign	0.17
R9686:Spata13	UTSW	14	60751659	missense	probably damaging	1.00
R9723:Spata13	UTSW	14	60691049	missense	probably damaging	0.98
R9747:Spata13	UTSW	14	60691791	missense	probably benign
R9774:Spata13	UTSW	14	60706747	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AACTCTGAGAGACCTCGCTCAGTC -3'
(R):5'- AGCCGCATCCTTGACATTGCTC -3'

Sequencing Primer
(F):5'- GTTTCCAAGGAGGAGCCTAC -3'
(R):5'- GACATTGCTCACCAGTCTCAG -3'

Posted On

2014-05-23