Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:Spata31e5'

168591

Institutional Source

Beutler Lab

Gene Symbol

Spata31e5

Ensembl Gene

ENSMUSG00000048411

Gene Name

spermatogenesis associated 31 subfamily E member 5

Synonyms

Gm597, LOC210962

MMRRC Submission

039561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28815203-28819333 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28817829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 68 (T68S)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059937
AA Change: T68S

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: T68S

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

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,448,729 (GRCm39)	L147Q	probably damaging	Het
Aadacl4fm5	T	C	4: 144,504,329 (GRCm39)	N274S	probably damaging	Het
Abcb1a	A	G	5: 8,724,791 (GRCm39)	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,337,597 (GRCm39)	L495*	probably null	Het
Add1	T	C	5: 34,767,961 (GRCm39)	I240T	probably benign	Het
Adgra2	C	A	8: 27,611,306 (GRCm39)	S870*	probably null	Het
Amer3	G	A	1: 34,618,408 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,670 (GRCm39)	V486D	probably benign	Het
Bcorl1	T	A	X: 47,494,821 (GRCm39)	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,411,338 (GRCm39)	D282G	possibly damaging	Het
Cep112	A	G	11: 108,362,880 (GRCm39)	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,967,401 (GRCm39)	P26S	probably benign	Het
Crygf	A	C	1: 65,967,197 (GRCm39)	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,466,585 (GRCm39)	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,245,237 (GRCm39)	I105V	probably benign	Het
Dus4l	T	C	12: 31,690,938 (GRCm39)	M238V	probably damaging	Het
Eprs1	G	A	1: 185,114,031 (GRCm39)	M326I	probably damaging	Het
Evpl	T	C	11: 116,114,661 (GRCm39)	T1010A	probably benign	Het
Fam124b	T	C	1: 80,178,148 (GRCm39)	T284A	possibly damaging	Het
Glb1l2	A	G	9: 26,680,420 (GRCm39)		probably benign	Het
Gm16223	T	A	5: 42,225,298 (GRCm39)		probably null	Het
Gm4952	T	A	19: 12,604,278 (GRCm39)	M230K	probably damaging	Het
Gm5828	C	A	1: 16,839,583 (GRCm39)		noncoding transcript	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna16	T	A	4: 88,594,979 (GRCm39)	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,245,027 (GRCm39)	G439D	probably damaging	Het
Kif1c	T	C	11: 70,596,555 (GRCm39)	S257P	probably damaging	Het
Kng1	A	G	16: 22,898,510 (GRCm39)	K456E	probably damaging	Het
Lpxn	T	C	19: 12,801,414 (GRCm39)	L142P	probably damaging	Het
Lratd1	C	T	12: 14,199,864 (GRCm39)	V288M	probably damaging	Het
Med23	A	G	10: 24,768,565 (GRCm39)		probably benign	Het
Mks1	A	T	11: 87,751,937 (GRCm39)	D369V	probably benign	Het
Myo1d	A	T	11: 80,576,734 (GRCm39)	Y114N	probably damaging	Het
Npas2	A	G	1: 39,350,935 (GRCm39)	D126G	possibly damaging	Het
Oga	A	G	19: 45,765,370 (GRCm39)	S146P	probably damaging	Het
Onecut2	T	C	18: 64,474,651 (GRCm39)	F401L	possibly damaging	Het
Or10n1	T	C	9: 39,524,992 (GRCm39)	I43T	probably damaging	Het
Or10v1	A	G	19: 11,873,978 (GRCm39)	T198A	probably benign	Het
Or4f61	T	C	2: 111,922,381 (GRCm39)	I222V	probably benign	Het
Parp11	T	A	6: 127,451,256 (GRCm39)	F102Y	possibly damaging	Het
Pcnx1	C	T	12: 81,965,572 (GRCm39)	H580Y	probably damaging	Het
Pde3b	A	G	7: 114,130,001 (GRCm39)	H852R	probably damaging	Het
Pira1	G	A	7: 3,742,639 (GRCm39)	T23I	possibly damaging	Het
Pou2af1	A	G	9: 51,144,508 (GRCm39)	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,246 (GRCm39)	V1190G	probably benign	Het
Rnf112	T	C	11: 61,341,236 (GRCm39)	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,987,378 (GRCm39)	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,045,834 (GRCm39)	V210A	probably benign	Het
Runx2	C	T	17: 45,046,224 (GRCm39)	A114T	possibly damaging	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Secisbp2	A	G	13: 51,836,131 (GRCm39)	S742G	possibly damaging	Het
Selenow	G	T	7: 15,654,223 (GRCm39)		probably benign	Het
Slc30a4	A	G	2: 122,531,334 (GRCm39)	V226A	probably damaging	Het
Sntb2	A	G	8: 107,718,164 (GRCm39)	N291D	probably damaging	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Specc1	T	A	11: 62,047,358 (GRCm39)	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,344,414 (GRCm39)	*154W	probably null	Het
Taar4	T	A	10: 23,836,510 (GRCm39)	M40K	possibly damaging	Het
Ubr2	A	T	17: 47,311,749 (GRCm39)	L34H	probably damaging	Het
Ubxn6	T	C	17: 56,376,003 (GRCm39)	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,821,825 (GRCm39)	T168S	probably benign	Het
Xirp2	A	T	2: 67,344,667 (GRCm39)	R2303*	probably null	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp13	G	T	17: 23,795,386 (GRCm39)	T395K	probably damaging	Het
Zfp281	A	G	1: 136,554,435 (GRCm39)	N471S	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
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
R3862:Spata31e5	UTSW	1	28,816,722 (GRCm39)	missense	probably damaging	0.98
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'- TGCAGACAGTAGGCACAGTTGAATC -3'
(R):5'- AGCACATCTGTGGTAAGTGTGGC -3'

Sequencing Primer
(F):5'- GCACAGTTGAATCAGTGAACTC -3'
(R):5'- Tgagagagagagagagagagagag -3'

Posted On

2014-04-13