Mutagenetix > Incidental Mutations

Incidental Mutation 'R6135:Spata13'

488312

Institutional Source

Beutler Lab

Gene Symbol

Spata13

Ensembl Gene

ENSMUSG00000021990

Gene Name

spermatogenesis associated 13

Synonyms

ESTM11

MMRRC Submission

044282-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60634001-60764556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60756428 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1110 (K1110E)

Ref Sequence

ENSEMBL: ENSMUSP00000123928 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022566
AA Change: K1110E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: K1110E

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: K1110E

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: K1110E

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: ENSMUST00000162939

Predicted Effect

probably benign
Transcript: ENSMUST00000162945
AA Change: K440E

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123888
Gene: ENSMUSG00000021990
AA Change: K440E

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,254,216	E95G	probably damaging	Het
Abca4	C	T	3: 122,138,447	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,969,121	R375H	probably benign	Het
Aimp1	T	C	3: 132,672,083	K174E	probably benign	Het
Aire	A	G	10: 78,042,967	L82P	probably damaging	Het
Akap13	T	A	7: 75,609,908	V760D	possibly damaging	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Carf	C	T	1: 60,147,963	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,554,850	M172K	probably benign	Het
Chpt1	A	T	10: 88,482,283	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,474,268	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,232,237		probably benign	Het
Col14a1	A	G	15: 55,380,850	T440A	unknown	Het
Creb3l3	A	G	10: 81,085,718	I331T	probably benign	Het
Cul9	T	C	17: 46,521,453	T1410A	probably benign	Het
Dnm1	T	A	2: 32,333,063		probably null	Het
Fhl5	A	T	4: 25,214,716	Y20*	probably null	Het
Fignl1	T	C	11: 11,802,557	D166G	probably benign	Het
Ghr	T	C	15: 3,325,965	I279V	probably benign	Het
Gm1979	T	G	5: 26,000,300	S180R	probably damaging	Het
Hydin	T	C	8: 110,462,660	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,501,620		probably null	Het
Inpp5d	A	G	1: 87,620,397		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kcnh2	T	A	5: 24,321,793	S1002C	probably damaging	Het
Krt83	T	A	15: 101,487,534	E319V	probably damaging	Het
Lbp	A	G	2: 158,317,549	I201V	probably benign	Het
Man1a2	G	A	3: 100,684,932		probably benign	Het
Myh8	A	G	11: 67,297,500	T996A	possibly damaging	Het
Nat10	A	G	2: 103,743,316	L319P	probably damaging	Het
Nelfa	A	G	5: 33,899,276		probably null	Het
Olfr1447	A	C	19: 12,901,439	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,005,817	N166K	probably damaging	Het
Pcdha6	C	A	18: 36,969,216	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,573,540	D91G	possibly damaging	Het
Pigp	A	G	16: 94,370,206	F22L	probably benign	Het
Pnpla8	A	C	12: 44,282,887	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,315,909	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,857,569	D645G	probably damaging	Het
Rnf213	G	A	11: 119,442,028	V2688I	probably benign	Het
Rnf43	A	G	11: 87,732,125	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,030,096	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,483,022	D210N	probably damaging	Het
Scin	G	T	12: 40,079,808	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,703,900	H477L	probably benign	Het
Slc26a8	A	T	17: 28,669,940	M195K	probably benign	Het
Spata24	T	A	18: 35,660,450	E103V	probably damaging	Het
Srek1	T	C	13: 103,774,386	N25S	probably damaging	Het
Strada	T	C	11: 106,173,314	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,736,005	W1143R	probably damaging	Het
Trip12	A	T	1: 84,760,838	D765E	probably benign	Het
Ttbk2	G	A	2: 120,750,317	R444C	probably damaging	Het
Ush2a	T	A	1: 188,912,106	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,689,926	E2500K	probably benign	Het
Vps16	A	G	2: 130,438,653	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,971,711	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,074,196	D347G	possibly damaging	Het
Zfp653	G	A	9: 22,058,262	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 11,065,986	H325Q	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
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

Predicted Primers

PCR Primer
(F):5'- GTTGATTCATTCCGGAGAGCTG -3'
(R):5'- CCTTGAGGGAGTATCTGGGAAG -3'

Sequencing Primer
(F):5'- TTCCGGAGAGCTGACCAAAATC -3'
(R):5'- TATCTGGGAAGAGAAGGCCAGTG -3'

Posted On

2017-10-10