Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03189:Spata13'

412588

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata13

Ensembl Gene

ENSMUSG00000021990

Gene Name

spermatogenesis associated 13

Synonyms

ESTM11

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

60634001-60764556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60691614 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 207 (I207T)

Ref Sequence

ENSEMBL: ENSMUSP00000123928 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022566
AA Change: I207T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: I207T

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

possibly damaging
Transcript: ENSMUST00000160973
AA Change: I207T

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: I207T

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

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adam22	A	T	5: 8,111,897	Y50*	probably null	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	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
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
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

Posted On

2016-08-02