Mutagenetix > Incidental Mutations

Incidental Mutation 'R9050:Spats2'

688315

Institutional Source

Beutler Lab

Gene Symbol

Spats2

Ensembl Gene

ENSMUSG00000051934

Gene Name

spermatogenesis associated, serine-rich 2

Synonyms

Scr59, 59kDa, 2700012F11Rik, p59

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.484) question?

Stock #

R9050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99125916-99213215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99212129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 469 (R469L)

Ref Sequence

ENSEMBL: ENSMUSP00000070549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063517]

AlphaFold

Q8K1N4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063517
AA Change: R469L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000070549
Gene: ENSMUSG00000051934
AA Change: R469L

Domain	Start	End	E-Value	Type
Pfam:DUF1387	81	385	8.1e-125	PFAM
low complexity region	391	413	N/A	INTRINSIC
low complexity region	517	528	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd5	T	C	9: 122,379,540	Y332H	probably benign	Het
Apoc3	A	G	9: 46,233,294	F77L	probably benign	Het
Atp5c1	A	T	2: 10,064,238	D99E	probably damaging	Het
Atxn3	A	T	12: 101,958,128		probably benign	Het
Calcoco1	A	G	15: 102,709,965	V463A	probably damaging	Het
Cby3	A	G	11: 50,357,790	T20A	possibly damaging	Het
Cdhr2	A	G	13: 54,735,320	D1256G	probably benign	Het
Cep350	A	T	1: 155,862,941	D2385E	possibly damaging	Het
Clec9a	G	C	6: 129,419,598	A170P	possibly damaging	Het
Col5a3	C	T	9: 20,786,395	G871S	probably damaging	Het
Fmo4	A	G	1: 162,807,530	S159P	probably benign	Het
Gabbr2	A	G	4: 46,798,659	F272L	probably benign	Het
Glp1r	G	A	17: 30,918,918	G108S	probably damaging	Het
Gm13078	A	T	4: 143,726,759	T146S	probably benign	Het
Gm1673	G	C	5: 33,983,530	A29P	unknown	Het
Herpud1	T	C	8: 94,390,826	S13P	probably benign	Het
Hps5	T	C	7: 46,773,183	D574G	probably benign	Het
Il7	A	G	3: 7,604,110	V22A	possibly damaging	Het
Kmt5c	A	G	7: 4,742,282	T91A	probably benign	Het
Mgea5	T	C	19: 45,767,915	T430A	probably damaging	Het
Mrpl39	A	C	16: 84,734,956		probably benign	Het
Mtr	T	C	13: 12,216,862	D652G	probably null	Het
Neb	C	T	2: 52,189,889	V5768M	probably damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nmrk1	T	A	19: 18,641,175	M74K	probably benign	Het
Obox8	A	G	7: 14,332,945	L58P	unknown	Het
Olfr1359	A	G	13: 21,702,980		probably benign	Het
Olfr1391	T	C	11: 49,328,103	S231P	possibly damaging	Het
Olfr486	A	C	7: 108,171,880	L288W	probably damaging	Het
Olfr99	A	G	17: 37,279,929	Y164H	probably damaging	Het
Pcdhb17	T	G	18: 37,487,233	V692G	probably damaging	Het
Pfas	A	G	11: 68,991,741	V829A	probably benign	Het
Pth	A	G	7: 113,385,836	V110A	probably benign	Het
Rabggta	T	A	14: 55,721,599	Q37L	probably benign	Het
Rin3	A	G	12: 102,369,479	T550A	probably damaging	Het
Scn8a	G	A	15: 101,008,280	V785I	possibly damaging	Het
Sec24d	T	C	3: 123,350,725	V617A	probably benign	Het
Slc47a1	T	C	11: 61,344,334	I558V	probably benign	Het
Slc6a15	A	T	10: 103,416,655	M560L	possibly damaging	Het
Slfn9	G	A	11: 82,988,294	T3I	probably benign	Het
Spag9	A	G	11: 94,044,468	H35R	probably damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Ssx2ip	C	T	3: 146,438,757	S592L	possibly damaging	Het
Ston1	A	G	17: 88,636,800	T545A	probably benign	Het
Suz12	C	T	11: 80,022,197	L379F	probably damaging	Het
Tbc1d24	A	T	17: 24,185,924	V82E	possibly damaging	Het
Tbc1d24	C	A	17: 24,185,925	V82L	probably benign	Het
Thada	A	G	17: 84,429,201	I884T	probably damaging	Het
Tln1	C	A	4: 43,549,786	E542*	probably null	Het
Togaram2	T	C	17: 71,700,883	L401P	probably damaging	Het
Ttbk2	A	T	2: 120,806,838	N115K	probably benign	Het
Tubgcp4	G	A	2: 121,173,598	S40N	probably benign	Het
Wrn	T	C	8: 33,342,993	D157G	probably damaging	Het
Zer1	A	T	2: 30,111,282	F70Y	probably damaging	Het
Zfp791	T	C	8: 85,110,705	I177V	possibly damaging	Het

Other mutations in Spats2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Spats2	APN	15	99180593	missense	possibly damaging	0.88
IGL00696:Spats2	APN	15	99210894	missense	probably damaging	1.00
IGL01524:Spats2	APN	15	99212246	missense	probably benign	0.00
IGL02496:Spats2	APN	15	99173448	missense	probably damaging	1.00
IGL03031:Spats2	APN	15	99180688	missense	probably benign	0.00
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0067:Spats2	UTSW	15	99212287	missense	possibly damaging	0.64
R0630:Spats2	UTSW	15	99186028	splice site	probably null
R1577:Spats2	UTSW	15	99178452	missense	possibly damaging	0.94
R2012:Spats2	UTSW	15	99178494	missense	probably damaging	0.97
R2229:Spats2	UTSW	15	99174453	critical splice donor site	probably null
R2982:Spats2	UTSW	15	99211046	missense	probably benign
R3743:Spats2	UTSW	15	99210914	missense	probably benign	0.09
R4679:Spats2	UTSW	15	99180722	missense	possibly damaging	0.62
R4857:Spats2	UTSW	15	99174420	missense	probably damaging	1.00
R4962:Spats2	UTSW	15	99212276	missense	probably benign	0.00
R5291:Spats2	UTSW	15	99178541	missense	probably benign	0.16
R6879:Spats2	UTSW	15	99173412	missense	probably damaging	1.00
R7187:Spats2	UTSW	15	99212173	missense	probably benign	0.02
R7476:Spats2	UTSW	15	99212141	missense	probably benign	0.00
R8084:Spats2	UTSW	15	99167080	missense	possibly damaging	0.94
R8239:Spats2	UTSW	15	99208895	missense	probably damaging	1.00
R8338:Spats2	UTSW	15	99178459	missense	probably damaging	1.00
R8979:Spats2	UTSW	15	99212242	missense	possibly damaging	0.92
R9013:Spats2	UTSW	15	99199247	missense	probably damaging	1.00
R9433:Spats2	UTSW	15	99178565	nonsense	probably null
X0062:Spats2	UTSW	15	99178532	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTTTGCTATCAGAACACTGC -3'
(R):5'- TCAGGAGTTCGCAGCTTCAG -3'

Sequencing Primer
(F):5'- TTGCTATCAGAACACTGCTATAACC -3'
(R):5'- AGCCCCTTTTTGAACGAAGG -3'

Posted On

2021-11-19