Mutagenetix > Incidental Mutation

Incidental Mutation 'R3862:Spata31e5'

276380

Institutional Source

Beutler Lab

Gene Symbol

Spata31e5

Ensembl Gene

ENSMUSG00000048411

Gene Name

spermatogenesis associated 31 subfamily E member 5

Synonyms

Gm597, LOC210962

MMRRC Submission

040903-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3862 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28815203-28819333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28816722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 437 (T437A)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059937]

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: T437A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: T437A

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	112	129	N/A	INTRINSIC
Pfam:FAM75	137	472	8.1e-14	PFAM
low complexity region	664	675	N/A	INTRINSIC
internal_repeat_1	718	807	1.4e-5	PROSPERO
internal_repeat_1	807	894	1.4e-5	PROSPERO

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apc2	G	A	10: 80,143,393 (GRCm39)	G498R	possibly damaging	Het
Bltp1	T	A	3: 36,939,547 (GRCm39)	F134I	possibly damaging	Het
Bub1	A	G	2: 127,656,676 (GRCm39)		probably benign	Het
Cttnbp2	C	T	6: 18,434,905 (GRCm39)	V318M	probably benign	Het
D430041D05Rik	T	C	2: 104,044,522 (GRCm39)	I825M	possibly damaging	Het
Enpp6	A	G	8: 47,519,027 (GRCm39)	Q265R	probably benign	Het
Eri1	A	G	8: 35,958,448 (GRCm39)	V61A	possibly damaging	Het
Evi2	T	A	11: 79,406,472 (GRCm39)	I368F	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fkbp9	A	G	6: 56,845,890 (GRCm39)	T409A	probably benign	Het
Gtpbp4	A	G	13: 9,040,834 (GRCm39)	V97A	probably damaging	Het
Hapln1	C	T	13: 89,753,418 (GRCm39)	Q195*	probably null	Het
Helt	G	T	8: 46,745,315 (GRCm39)	N189K	probably benign	Het
Hint2	A	G	4: 43,654,771 (GRCm39)	V91A	probably damaging	Het
Ighv1-7	A	G	12: 114,502,266 (GRCm39)	I67T	probably damaging	Het
Kif26a	A	G	12: 112,146,323 (GRCm39)	E1803G	probably benign	Het
Lrrd1	G	A	5: 3,901,248 (GRCm39)	V518I	probably benign	Het
Marchf11	C	T	15: 26,387,952 (GRCm39)	A269V	probably damaging	Het
Mep1b	A	G	18: 21,217,226 (GRCm39)	N115S	possibly damaging	Het
Naif1	A	G	2: 32,342,637 (GRCm39)	R63G	probably damaging	Het
Nsmaf	A	G	4: 6,435,064 (GRCm39)	I126T	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or52h7	G	A	7: 104,214,145 (GRCm39)	R239H	probably benign	Het
Or8g53	T	A	9: 39,683,920 (GRCm39)	M59L	probably benign	Het
Pcdhb3	A	G	18: 37,436,329 (GRCm39)	E765G	probably damaging	Het
Ppp4r4	C	T	12: 103,562,680 (GRCm39)	R550*	probably null	Het
Scgb2b3	C	T	7: 31,061,430 (GRCm39)		probably null	Het
Sgcz	T	C	8: 37,990,565 (GRCm39)	I263V	probably benign	Het
Slc15a1	C	T	14: 121,722,269 (GRCm39)	V211I	probably benign	Het
Slc25a21	G	T	12: 56,764,920 (GRCm39)		probably benign	Het
Snrnp200	C	A	2: 127,075,019 (GRCm39)		probably benign	Het
Sptbn1	G	T	11: 30,092,329 (GRCm39)	Q479K	possibly damaging	Het
Stag1	T	A	9: 100,826,838 (GRCm39)	V935D	probably benign	Het
Veph1	C	T	3: 66,162,313 (GRCm39)	C115Y	probably damaging	Het
Zc3h12a	T	C	4: 125,020,732 (GRCm39)	D37G	probably benign	Het
Zfand4	A	T	6: 116,270,776 (GRCm39)		probably benign	Het

Other mutations in Spata31e5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Spata31e5	APN	1	28,817,732 (GRCm39)	missense	possibly damaging	0.94
IGL00885:Spata31e5	APN	1	28,815,926 (GRCm39)	missense	unknown
IGL01296:Spata31e5	APN	1	28,816,137 (GRCm39)	missense	probably benign	0.23
IGL01476:Spata31e5	APN	1	28,816,534 (GRCm39)	missense	probably benign	0.04
IGL02125:Spata31e5	APN	1	28,815,419 (GRCm39)	missense	possibly damaging	0.91
IGL02410:Spata31e5	APN	1	28,817,712 (GRCm39)	missense	probably benign	0.25
IGL02982:Spata31e5	APN	1	28,817,135 (GRCm39)	missense	probably damaging	1.00
IGL03031:Spata31e5	APN	1	28,817,664 (GRCm39)	missense	probably benign	0.03
IGL03267:Spata31e5	APN	1	28,816,202 (GRCm39)	missense	probably damaging	1.00
R0294:Spata31e5	UTSW	1	28,817,744 (GRCm39)	missense	probably benign	0.00
R0433:Spata31e5	UTSW	1	28,816,423 (GRCm39)	nonsense	probably null
R0485:Spata31e5	UTSW	1	28,817,223 (GRCm39)	missense	probably damaging	1.00
R0645:Spata31e5	UTSW	1	28,816,011 (GRCm39)	missense	probably damaging	0.99
R0744:Spata31e5	UTSW	1	28,816,902 (GRCm39)	missense	possibly damaging	0.46
R0836:Spata31e5	UTSW	1	28,816,902 (GRCm39)	missense	possibly damaging	0.46
R1036:Spata31e5	UTSW	1	28,816,883 (GRCm39)	missense	probably benign	0.01
R1302:Spata31e5	UTSW	1	28,815,421 (GRCm39)	missense	probably benign	0.00
R1394:Spata31e5	UTSW	1	28,815,890 (GRCm39)	missense	possibly damaging	0.61
R1395:Spata31e5	UTSW	1	28,815,890 (GRCm39)	missense	possibly damaging	0.61
R1514:Spata31e5	UTSW	1	28,817,829 (GRCm39)	missense	possibly damaging	0.83
R1535:Spata31e5	UTSW	1	28,816,505 (GRCm39)	missense	probably damaging	1.00
R2004:Spata31e5	UTSW	1	28,816,260 (GRCm39)	missense	probably damaging	1.00
R2021:Spata31e5	UTSW	1	28,817,234 (GRCm39)	missense	probably damaging	0.98
R2022:Spata31e5	UTSW	1	28,817,234 (GRCm39)	missense	probably damaging	0.98
R3115:Spata31e5	UTSW	1	28,815,410 (GRCm39)	missense	possibly damaging	0.92
R3615:Spata31e5	UTSW	1	28,815,656 (GRCm39)	missense	probably benign	0.26
R3616:Spata31e5	UTSW	1	28,815,656 (GRCm39)	missense	probably benign	0.26
R4067:Spata31e5	UTSW	1	28,816,712 (GRCm39)	missense	probably damaging	0.98
R4119:Spata31e5	UTSW	1	28,817,054 (GRCm39)	missense	probably damaging	0.99
R4415:Spata31e5	UTSW	1	28,816,214 (GRCm39)	missense	probably benign	0.01
R5010:Spata31e5	UTSW	1	28,816,943 (GRCm39)	missense	possibly damaging	0.52
R5109:Spata31e5	UTSW	1	28,816,636 (GRCm39)	missense	possibly damaging	0.46
R5122:Spata31e5	UTSW	1	28,819,141 (GRCm39)	missense	probably benign	0.00
R5533:Spata31e5	UTSW	1	28,817,163 (GRCm39)	missense	probably damaging	1.00
R6085:Spata31e5	UTSW	1	28,817,308 (GRCm39)	missense	possibly damaging	0.55
R6116:Spata31e5	UTSW	1	28,817,780 (GRCm39)	missense	probably benign	0.01
R6750:Spata31e5	UTSW	1	28,816,495 (GRCm39)	missense	probably damaging	0.98
R6757:Spata31e5	UTSW	1	28,819,191 (GRCm39)	missense	probably damaging	0.98
R6774:Spata31e5	UTSW	1	28,815,974 (GRCm39)	missense	probably benign	0.00
R7156:Spata31e5	UTSW	1	28,815,848 (GRCm39)	missense	possibly damaging	0.53
R7365:Spata31e5	UTSW	1	28,819,233 (GRCm39)	missense	probably benign	0.04
R7739:Spata31e5	UTSW	1	28,816,689 (GRCm39)	missense	possibly damaging	0.72
R7996:Spata31e5	UTSW	1	28,817,487 (GRCm39)	missense	probably damaging	0.98
R8082:Spata31e5	UTSW	1	28,816,579 (GRCm39)	missense	probably benign	0.08
R8281:Spata31e5	UTSW	1	28,817,225 (GRCm39)	missense	possibly damaging	0.77
R8514:Spata31e5	UTSW	1	28,817,586 (GRCm39)	missense	probably damaging	1.00
R8944:Spata31e5	UTSW	1	28,816,155 (GRCm39)	missense	probably benign	0.00
R9042:Spata31e5	UTSW	1	28,816,037 (GRCm39)	missense	possibly damaging	0.72
R9101:Spata31e5	UTSW	1	28,815,740 (GRCm39)	missense	probably benign	0.04
R9106:Spata31e5	UTSW	1	28,815,975 (GRCm39)	missense	probably benign	0.00
R9173:Spata31e5	UTSW	1	28,816,430 (GRCm39)	missense	probably benign	0.22
R9596:Spata31e5	UTSW	1	28,815,688 (GRCm39)	missense	probably benign	0.07
R9632:Spata31e5	UTSW	1	28,817,120 (GRCm39)	missense	probably benign	0.20
R9656:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9659:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9661:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9663:Spata31e5	UTSW	1	28,816,536 (GRCm39)	missense	probably benign	0.02
R9710:Spata31e5	UTSW	1	28,817,120 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTTGGATCTCCTGAACCTCTGG -3'
(R):5'- AGGGATGCTCTTAAACAAGGCC -3'

Sequencing Primer
(F):5'- TGGATCTCCTGAACCTCTGGAAAAG -3'
(R):5'- GGCCAAAACAAAGTTTGGCAC -3'

Posted On

2015-04-06