Mutagenetix > Incidental Mutation

Incidental Mutation 'RF040:Spata31f3'

604758

Institutional Source

Beutler Lab

Gene Symbol

Spata31f3

Ensembl Gene

ENSMUSG00000050141

Gene Name

spermatogenesis associated 31 subfamily F member 3

Synonyms

BC049635, Fam205c

Accession Numbers

Essential gene?

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

Stock #

RF040 (G1)

Quality Score

147.466

Status

Not validated

Chromosome

Chromosomal Location

42868004-42874234 bp(-) (GRCm39)

Type of Mutation

small deletion (11 aa in frame mutation)

DNA Base Change (assembly)

TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG to TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG at 42871823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055944] [ENSMUST00000107978]

AlphaFold

Q80YD3

Predicted Effect

probably benign
Transcript: ENSMUST00000055944

SMART Domains

Protein: ENSMUSP00000060318
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	51	139	2.7e-31	PFAM
internal_repeat_1	147	168	5.83e-10	PROSPERO
internal_repeat_1	180	201	5.83e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107978

SMART Domains

Protein: ENSMUSP00000103612
Gene: ENSMUSG00000050141

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	138	3.4e-28	PFAM
internal_repeat_1	147	168	5.79e-10	PROSPERO
internal_repeat_1	180	201	5.79e-10	PROSPERO
low complexity region	278	289	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTG	TGCTGTGACAGCTGTG	1: 82,891,298 (GRCm39)		probably benign	Het
A030005L19Rik	G	GTGGCTGCTC	1: 82,891,311 (GRCm39)		probably benign	Het
Brme1	TG	TGTCAGGGCAGCAGCAG	8: 84,894,204 (GRCm39)		probably benign	Het
Cacna1f	CTGAATTGGTTCCCAGACCCGTGT	CT	X: 7,485,210 (GRCm39)		probably null	Het
Calhm1	C	CTGTGGCTGTGGA	19: 47,129,716 (GRCm39)		probably benign	Het
Cdx1	CTGCTG	CTGCTGATGCTG	18: 61,152,942 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Dbr1	GAGGAG	GAGGAGTAGGAG	9: 99,465,750 (GRCm39)		probably null	Het
Dnajc2	TAGTTG	T	5: 21,962,695 (GRCm39)		probably null	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)		probably null	Het
Flywch1	CTCCTGGTGT	CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT	17: 23,981,143 (GRCm39)		probably null	Het
Gab3	CTT	CTTTTT	X: 74,043,633 (GRCm39)		probably benign	Het
Garin5a	C	CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA	7: 44,149,945 (GRCm39)		probably null	Het
Garin5a	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,149,955 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Heatr3	TAT	TATTGAT	8: 88,883,085 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGC	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AACA	AACAACA	X: 70,162,420 (GRCm39)		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,875,749 (GRCm39)		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,183,388 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,571 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Ncoa6	TGCAGC	TGC	2: 155,263,651 (GRCm39)		probably benign	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)		probably null	Het
Nolc1	AGCAGCAGC	AGCAGCAGCCGCAGCAGC	19: 46,069,802 (GRCm39)		probably benign	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,458,068 (GRCm39)		probably benign	Het
Or10j2	GTGACATC	G	1: 173,098,276 (GRCm39)		probably null	Het
Or52z15	ACTTGCTGATATCTT	ACTT	7: 103,332,145 (GRCm39)		probably null	Het
Osmr	TTCT	TTCTTCT	15: 6,867,182 (GRCm39)		probably benign	Het
Padi3	TCTCAC	TC	4: 140,520,283 (GRCm39)		probably benign	Het
Pdik1l	AC	ACCACCGC	4: 134,006,826 (GRCm39)		probably benign	Het
Rpgrip1	AGGAAGAGG	AG	14: 52,386,994 (GRCm39)		probably null	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150 (GRCm39)		probably benign	Het
Ryr3	CTGA	C	2: 112,740,869 (GRCm39)		probably benign	Het
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,499,066 (GRCm39)		probably benign	Het
Smarca2	GC	GCCCCACC	19: 26,608,422 (GRCm39)		probably benign	Het
Sprr2b	CAGTATGCTGTGAGCCTTGTCCTCCT	C	3: 92,224,871 (GRCm39)		probably null	Het
Sry	GCTG	GCTGGTGGTGGTGGTCATGGAACTG	Y: 2,662,590 (GRCm39)		probably benign	Het
Tcof1	CT	CTATT	18: 60,961,480 (GRCm39)		probably benign	Het
Tcof1	GC	GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC	18: 60,966,655 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,022 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,035 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGTCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tmem59	TTTGTTT	TTTGTTTGGTTGTTT	4: 107,047,723 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	15: 72,673,141 (GRCm39)		probably benign	Het
Triobp	CAA	CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA	15: 78,851,263 (GRCm39)		probably benign	Het
Xirp2	TT	TTTAT	2: 67,355,888 (GRCm39)		probably benign	Het
Zfhx3	CAGCA	CAGCAACAGGAGCA	8: 109,682,733 (GRCm39)		probably benign	Het

Other mutations in Spata31f3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Spata31f3	APN	4	42,868,564 (GRCm39)	missense	probably benign	0.40
IGL01697:Spata31f3	APN	4	42,874,163 (GRCm39)	missense	probably benign
IGL02413:Spata31f3	APN	4	42,868,549 (GRCm39)	missense	probably damaging	0.99
IGL02450:Spata31f3	APN	4	42,874,127 (GRCm39)	missense	probably benign
R0433:Spata31f3	UTSW	4	42,874,013 (GRCm39)	splice site	probably benign
R1580:Spata31f3	UTSW	4	42,874,020 (GRCm39)	splice site	probably null
R2042:Spata31f3	UTSW	4	42,874,030 (GRCm39)	missense	possibly damaging	0.96
R2102:Spata31f3	UTSW	4	42,868,558 (GRCm39)	missense	probably benign	0.00
R3824:Spata31f3	UTSW	4	42,873,492 (GRCm39)	critical splice donor site	probably null
R4192:Spata31f3	UTSW	4	42,874,185 (GRCm39)	utr 5 prime	probably benign
R4668:Spata31f3	UTSW	4	42,871,608 (GRCm39)	missense	probably benign	0.00
R4690:Spata31f3	UTSW	4	42,873,032 (GRCm39)	splice site	probably null
R5743:Spata31f3	UTSW	4	42,873,087 (GRCm39)	missense	probably damaging	0.99
R5868:Spata31f3	UTSW	4	42,871,711 (GRCm39)	missense	probably damaging	0.96
R6186:Spata31f3	UTSW	4	42,872,000 (GRCm39)	missense	possibly damaging	0.95
R6778:Spata31f3	UTSW	4	42,868,522 (GRCm39)	missense	possibly damaging	0.94
R6986:Spata31f3	UTSW	4	42,868,696 (GRCm39)	missense	possibly damaging	0.90
R7318:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7413:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7675:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7785:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R7842:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R8125:Spata31f3	UTSW	4	42,873,051 (GRCm39)	missense	probably damaging	0.99
R8808:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R8954:Spata31f3	UTSW	4	42,871,753 (GRCm39)	missense	probably damaging	0.98
R9343:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
R9620:Spata31f3	UTSW	4	42,871,823 (GRCm39)	small deletion	probably benign
X0052:Spata31f3	UTSW	4	42,874,047 (GRCm39)	missense	possibly damaging	0.67

Predicted Primers

PCR Primer
(F):5'- CATCCTGGAACGCATTTGAC -3'
(R):5'- ACCTCTTCCAGTCTACTGAGG -3'

Sequencing Primer
(F):5'- AACGCATTTGACCCTTGAGG -3'
(R):5'- GGCACTCCCGCAGCTTTTC -3'

Posted On

2019-12-04