Mutagenetix > Incidental Mutation

Incidental Mutation 'R4172:Spata25'

318162

Institutional Source

Beutler Lab

Gene Symbol

Spata25

Ensembl Gene

ENSMUSG00000017767

Gene Name

spermatogenesis associated 25

Synonyms

1700020C07Rik, TSG23

MMRRC Submission

044391-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

164669302-164670454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 164669408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 201 (W201L)

Ref Sequence

ENSEMBL: ENSMUSP00000017911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017908] [ENSMUST00000017911] [ENSMUST00000042775] [ENSMUST00000132282]

AlphaFold

Q9DA57

Predicted Effect

probably benign
Transcript: ENSMUST00000017908

SMART Domains

Protein: ENSMUSP00000017908
Gene: ENSMUSG00000017764

Domain	Start	End	E-Value	Type
Pfam:SWIM	342	375	2e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017911
AA Change: W201L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017911
Gene: ENSMUSG00000017767
AA Change: W201L

Domain	Start	End	E-Value	Type
Pfam:SPATA25	1	226	3.2e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042775

SMART Domains

Protein: ENSMUSP00000041806
Gene: ENSMUSG00000039873

Domain	Start	End	E-Value	Type
Pfam:Neuralized	25	90	1.1e-27	PFAM
SOCS_box	248	285	3.77e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141411

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdc5l	A	G	17: 45,730,698 (GRCm39)	I196T	probably damaging	Het
Dnah7b	G	T	1: 46,266,106 (GRCm39)	R2225L	probably damaging	Het
Gfra2	C	A	14: 71,133,521 (GRCm39)	T117K	possibly damaging	Het
Gle1	T	C	2: 29,828,538 (GRCm39)	I120T	probably benign	Het
Guf1	T	A	5: 69,715,572 (GRCm39)	N52K	possibly damaging	Het
Helq	T	C	5: 100,919,713 (GRCm39)	K813E	probably benign	Het
Ighv7-4	A	T	12: 114,186,635 (GRCm39)	F46I	probably damaging	Het
Il6st	G	A	13: 112,631,861 (GRCm39)	D467N	probably benign	Het
Jak1	C	A	4: 101,016,329 (GRCm39)	V812L	probably benign	Het
Kank4	G	T	4: 98,667,358 (GRCm39)	T363K	probably damaging	Het
Lcat	C	A	8: 106,669,059 (GRCm39)	W72L	possibly damaging	Het
Map2	T	C	1: 66,452,759 (GRCm39)	S392P	possibly damaging	Het
Mtmr2	T	C	9: 13,711,358 (GRCm39)	F456L	probably damaging	Het
Myh8	A	T	11: 67,183,247 (GRCm39)	R709W	probably damaging	Het
Nop14	T	C	5: 34,807,951 (GRCm39)	N337S	probably damaging	Het
Npbwr1	A	G	1: 5,987,155 (GRCm39)	Y120H	probably damaging	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Oxsm	A	T	14: 16,242,079 (GRCm38)	V230E	probably damaging	Het
Paox	G	A	7: 139,713,941 (GRCm39)	G234R	probably damaging	Het
Polq	C	T	16: 36,881,120 (GRCm39)	H1095Y	probably benign	Het
Rad51c	T	C	11: 87,293,572 (GRCm39)	T77A	probably damaging	Het
Ryr3	C	A	2: 112,624,815 (GRCm39)	V2202F	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx27	T	C	3: 94,410,794 (GRCm39)	H452R	probably benign	Het
Son	C	T	16: 91,456,250 (GRCm39)	H1666Y	probably damaging	Het
Spint2	A	G	7: 28,963,097 (GRCm39)	V67A	probably damaging	Het
Srgap1	T	C	10: 121,691,268 (GRCm39)	Y322C	probably benign	Het
Synm	T	C	7: 67,385,109 (GRCm39)	Y409C	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tpm1	T	C	9: 66,930,649 (GRCm39)	N283D	probably benign	Het
Trpv6	T	C	6: 41,602,432 (GRCm39)	D318G	probably damaging	Het
Ube2j2	A	G	4: 156,033,543 (GRCm39)	D39G	probably damaging	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vwa5a	T	C	9: 38,635,166 (GRCm39)	F224L	probably damaging	Het
Zfp445	T	A	9: 122,681,002 (GRCm39)	M980L	probably benign	Het

Other mutations in Spata25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02402:Spata25	APN	2	164,670,377 (GRCm39)	start codon destroyed	probably null	0.02
R5268:Spata25	UTSW	2	164,669,954 (GRCm39)	missense	probably damaging	1.00
R7341:Spata25	UTSW	2	164,669,582 (GRCm39)	missense	probably damaging	0.98
R7635:Spata25	UTSW	2	164,669,889 (GRCm39)	missense	probably benign
R8257:Spata25	UTSW	2	164,669,690 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GGTATGAAGAACTTCCTGCGG -3'
(R):5'- TCTGCCAATATCCTCCGAGG -3'

Sequencing Primer
(F):5'- TCAGGGTGGCTCAGTTACC -3'
(R):5'- AATATCCTCCGAGGCAGGG -3'

Posted On

2015-06-10