Mutagenetix > Incidental Mutation

Incidental Mutation 'R6135:Spata24'

488322

Institutional Source

Beutler Lab

Gene Symbol

Spata24

Ensembl Gene

ENSMUSG00000024352

Gene Name

spermatogenesis associated 24

Synonyms

4930583E11Rik, 5133400G04Rik, TIPT, TIPT2, 2700012K08Rik

MMRRC Submission

044282-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.651) question?

Stock #

R6135 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35789742-35795239 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35793503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 103 (E103V)

Ref Sequence

ENSEMBL: ENSMUSP00000094324 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000025209] [ENSMUST00000096573] [ENSMUST00000096573]

AlphaFold

Q6P926

Predicted Effect

probably damaging
Transcript: ENSMUST00000025209
AA Change: E103V

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

SMART Domains

Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352
AA Change: E103V

Domain	Start	End	E-Value	Type
Pfam:SPATA24	10	191	1.5e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000025209
AA Change: E103V

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

SMART Domains

Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352
AA Change: E103V

Domain	Start	End	E-Value	Type
Pfam:SPATA24	10	191	1.5e-83	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096573
AA Change: E103V

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

SMART Domains

Protein: ENSMUSP00000094324
Gene: ENSMUSG00000024352
AA Change: E103V

Domain	Start	End	E-Value	Type
Pfam:SPATA24	49	169	1.4e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000096573
AA Change: E103V

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

SMART Domains

Protein: ENSMUSP00000094324
Gene: ENSMUSG00000024352
AA Change: E103V

Domain	Start	End	E-Value	Type
Pfam:SPATA24	49	169	1.4e-45	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

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: 77,402,335 (GRCm39)	E95G	probably damaging	Het
Abca4	C	T	3: 121,932,096 (GRCm39)	T250I	possibly damaging	Het
Ahi1	G	A	10: 20,845,020 (GRCm39)	R375H	probably benign	Het
Aimp1	T	C	3: 132,377,844 (GRCm39)	K174E	probably benign	Het
Aire	A	G	10: 77,878,801 (GRCm39)	L82P	probably damaging	Het
Akap13	T	A	7: 75,259,656 (GRCm39)	V760D	possibly damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Carf	C	T	1: 60,187,122 (GRCm39)	S540F	probably damaging	Het
Ccdc171	T	A	4: 83,473,087 (GRCm39)	M172K	probably benign	Het
Chpt1	A	T	10: 88,318,145 (GRCm39)	V199E	possibly damaging	Het
Cldn16	G	A	16: 26,293,018 (GRCm39)	D65N	possibly damaging	Het
Cnga3	G	A	1: 37,271,318 (GRCm39)		probably benign	Het
Col14a1	A	G	15: 55,244,246 (GRCm39)	T440A	unknown	Het
Creb3l3	A	G	10: 80,921,552 (GRCm39)	I331T	probably benign	Het
Cul9	T	C	17: 46,832,379 (GRCm39)	T1410A	probably benign	Het
Dnm1	T	A	2: 32,223,075 (GRCm39)		probably null	Het
Fhl5	A	T	4: 25,214,716 (GRCm39)	Y20*	probably null	Het
Fignl1	T	C	11: 11,752,557 (GRCm39)	D166G	probably benign	Het
Ghr	T	C	15: 3,355,447 (GRCm39)	I279V	probably benign	Het
Gm1979	T	G	5: 26,205,298 (GRCm39)	S180R	probably damaging	Het
Hydin	T	C	8: 111,189,292 (GRCm39)	V1232A	possibly damaging	Het
Ifnar1	A	G	16: 91,298,508 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,548,119 (GRCm39)		probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnh2	T	A	5: 24,526,791 (GRCm39)	S1002C	probably damaging	Het
Krt87	T	A	15: 101,385,415 (GRCm39)	E319V	probably damaging	Het
Lbp	A	G	2: 158,159,469 (GRCm39)	I201V	probably benign	Het
Man1a2	G	A	3: 100,592,248 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,188,326 (GRCm39)	T996A	possibly damaging	Het
Nat10	A	G	2: 103,573,661 (GRCm39)	L319P	probably damaging	Het
Nelfa	A	G	5: 34,056,620 (GRCm39)		probably null	Het
Or5b97	A	C	19: 12,878,803 (GRCm39)	Y114D	probably damaging	Het
Pcdha11	T	A	18: 37,138,870 (GRCm39)	N166K	probably damaging	Het
Pcdha6	C	A	18: 37,102,269 (GRCm39)	N487K	probably damaging	Het
Pcsk2	A	G	2: 143,415,460 (GRCm39)	D91G	possibly damaging	Het
Pigp	A	G	16: 94,171,065 (GRCm39)	F22L	probably benign	Het
Pnpla8	A	C	12: 44,329,670 (GRCm39)	N74T	probably benign	Het
Ppargc1b	T	C	18: 61,448,980 (GRCm39)	K114R	probably damaging	Het
Ppfia2	A	G	10: 106,693,430 (GRCm39)	D645G	probably damaging	Het
Rnf213	G	A	11: 119,332,854 (GRCm39)	V2688I	probably benign	Het
Rnf43	A	G	11: 87,622,951 (GRCm39)	H557R	probably damaging	Het
Rp1l1	C	T	14: 64,267,545 (GRCm39)	P1044S	probably damaging	Het
Rrp9	G	A	9: 106,360,221 (GRCm39)	D210N	probably damaging	Het
Scin	G	T	12: 40,129,807 (GRCm39)	Q329K	possibly damaging	Het
Scn7a	T	A	2: 66,534,244 (GRCm39)	H477L	probably benign	Het
Slc26a8	A	T	17: 28,888,914 (GRCm39)	M195K	probably benign	Het
Spata13	A	G	14: 60,993,877 (GRCm39)	K1110E	probably damaging	Het
Srek1	T	C	13: 103,910,894 (GRCm39)	N25S	probably damaging	Het
Strada	T	C	11: 106,064,140 (GRCm39)	Y59C	probably damaging	Het
Tnrc6c	T	C	11: 117,626,831 (GRCm39)	W1143R	probably damaging	Het
Trip12	A	T	1: 84,738,559 (GRCm39)	D765E	probably benign	Het
Ttbk2	G	A	2: 120,580,798 (GRCm39)	R444C	probably damaging	Het
Ush2a	T	A	1: 188,644,303 (GRCm39)	I4555N	possibly damaging	Het
Vcan	C	T	13: 89,838,045 (GRCm39)	E2500K	probably benign	Het
Vps16	A	G	2: 130,280,573 (GRCm39)	Y200C	possibly damaging	Het
Wdfy4	T	A	14: 32,693,668 (GRCm39)	H2719L	probably damaging	Het
Zfhx2	T	C	14: 55,311,653 (GRCm39)	D347G	possibly damaging	Het
Zfp653	G	A	9: 21,969,558 (GRCm39)	T236I	probably damaging	Het
Zscan4-ps1	A	T	7: 10,799,913 (GRCm39)	H325Q	probably benign	Het

Other mutations in Spata24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02867:Spata24	APN	18	35,789,805 (GRCm39)	missense	probably benign
IGL02889:Spata24	APN	18	35,789,805 (GRCm39)	missense	probably benign
R0044:Spata24	UTSW	18	35,789,887 (GRCm39)	missense	probably damaging	1.00
R0044:Spata24	UTSW	18	35,789,887 (GRCm39)	missense	probably damaging	1.00
R0136:Spata24	UTSW	18	35,793,515 (GRCm39)	missense	probably damaging	1.00
R6238:Spata24	UTSW	18	35,793,389 (GRCm39)	missense	possibly damaging	0.85
R7962:Spata24	UTSW	18	35,795,093 (GRCm39)	missense	probably damaging	0.99
R8312:Spata24	UTSW	18	35,793,861 (GRCm39)	missense	probably benign	0.07
R9090:Spata24	UTSW	18	35,790,054 (GRCm39)	missense	probably damaging	0.98
R9271:Spata24	UTSW	18	35,790,054 (GRCm39)	missense	probably damaging	0.98
R9324:Spata24	UTSW	18	35,790,064 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTTGGTAAAGAGCCCGTGTATG -3'
(R):5'- AGATCCTAAGAGACCCAGGG -3'

Sequencing Primer
(F):5'- TGGTAAAGAGCCCGTGTATGTTAAC -3'
(R):5'- CTAAGAGACCCAGGGTGGCTTG -3'

Posted On

2017-10-10