Mutagenetix > Incidental Mutation

Incidental Mutation 'R5380:Spata21'

425793

Institutional Source

Beutler Lab

Gene Symbol

Spata21

Ensembl Gene

ENSMUSG00000045004

Gene Name

spermatogenesis associated 21

Synonyms

MMRRC Submission

042955-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5380 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140815644-140840071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140834496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 494 (T494A)

Ref Sequence

ENSEMBL: ENSMUSP00000053080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051907]

AlphaFold

Q8BHW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000051907
AA Change: T494A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053080
Gene: ENSMUSG00000045004
AA Change: T494A

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
low complexity region	245	251	N/A	INTRINSIC
low complexity region	319	335	N/A	INTRINSIC
SCOP:d1mr8a_	428	494	7e-13	SMART
PDB:2RRT\|A	432	494	2e-7	PDB
low complexity region	524	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181353

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	T	4: 40,177,848 (GRCm39)	I290F	probably damaging	Het
Cfap107	A	T	4: 144,150,372 (GRCm39)	W70R	probably damaging	Het
Cmip	T	A	8: 118,149,629 (GRCm39)	C155S	probably damaging	Het
Cyba	G	T	8: 123,153,718 (GRCm39)	P82T	possibly damaging	Het
Dgkb	C	T	12: 38,177,299 (GRCm39)	R202W	possibly damaging	Het
Dnah6	T	C	6: 73,014,598 (GRCm39)	E3611G	probably damaging	Het
Dnah7b	A	T	1: 46,256,351 (GRCm39)	S1885C	probably benign	Het
Dop1b	A	G	16: 93,560,298 (GRCm39)	E748G	probably damaging	Het
Dusp18	C	A	11: 3,847,037 (GRCm39)	P9Q	probably damaging	Het
Fat4	T	A	3: 38,943,013 (GRCm39)	D635E	probably damaging	Het
Fbxo25	T	A	8: 13,971,886 (GRCm39)	S79R	probably benign	Het
Fgfr4	T	A	13: 55,315,230 (GRCm39)	L675Q	probably damaging	Het
Foxo1	T	A	3: 52,176,446 (GRCm39)	L75Q	probably damaging	Het
Fsip2	T	C	2: 82,805,742 (GRCm39)	V687A	possibly damaging	Het
Gga3	G	T	11: 115,479,257 (GRCm39)	P354Q	probably damaging	Het
Gm11077	A	T	6: 140,675,048 (GRCm39)	K13N	unknown	Het
Haus4	T	A	14: 54,787,232 (GRCm39)	K75M	probably damaging	Het
Igfn1	G	A	1: 135,893,825 (GRCm39)	T2085M	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Lims1	A	T	10: 58,252,492 (GRCm39)	I321L	probably damaging	Het
Ms4a6b	A	T	19: 11,499,044 (GRCm39)	I53F	probably damaging	Het
Msl3l2	A	G	10: 55,991,668 (GRCm39)	D131G	probably damaging	Het
Nrap	A	G	19: 56,370,035 (GRCm39)	V189A	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pfkl	T	G	10: 77,833,423 (GRCm39)	I260L	possibly damaging	Het
Pkd2l1	A	G	19: 44,146,171 (GRCm39)	Y128H	probably benign	Het
Prpf6	T	A	2: 181,250,059 (GRCm39)	L73Q	probably damaging	Het
R3hdm2	T	C	10: 127,321,316 (GRCm39)	V658A	probably damaging	Het
Rab27b	T	C	18: 70,129,226 (GRCm39)	T23A	probably damaging	Het
Rabif	A	G	1: 134,433,980 (GRCm39)	E98G	probably damaging	Het
Ror2	T	C	13: 53,271,185 (GRCm39)	D378G	possibly damaging	Het
Ssh2	A	G	11: 77,344,771 (GRCm39)	K919E	probably benign	Het
Tnrc6b	C	G	15: 80,763,766 (GRCm39)	P423A	possibly damaging	Het
Tomm40	A	G	7: 19,435,675 (GRCm39)	F352L	probably benign	Het
Tsg101	A	T	7: 46,540,868 (GRCm39)	D158E	probably damaging	Het
Tspo2	A	G	17: 48,755,780 (GRCm39)	F93L	probably benign	Het
V1ra8	T	A	6: 90,180,004 (GRCm39)	I69K	probably damaging	Het
Zan	T	C	5: 137,456,102 (GRCm39)	T1353A	unknown	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp281	A	G	1: 136,553,676 (GRCm39)	K218R	possibly damaging	Het

Other mutations in Spata21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Spata21	APN	4	140,838,675 (GRCm39)	splice site	probably null
IGL02679:Spata21	APN	4	140,838,576 (GRCm39)	unclassified	probably benign
R1772:Spata21	UTSW	4	140,838,607 (GRCm39)	missense	possibly damaging	0.79
R1894:Spata21	UTSW	4	140,838,692 (GRCm39)	missense	possibly damaging	0.53
R1950:Spata21	UTSW	4	140,838,716 (GRCm39)	missense	probably damaging	0.99
R2015:Spata21	UTSW	4	140,834,640 (GRCm39)	nonsense	probably null
R2093:Spata21	UTSW	4	140,824,277 (GRCm39)	missense	probably benign	0.04
R2911:Spata21	UTSW	4	140,830,393 (GRCm39)	missense	possibly damaging	0.46
R4809:Spata21	UTSW	4	140,824,431 (GRCm39)	critical splice donor site	probably null
R4897:Spata21	UTSW	4	140,832,261 (GRCm39)	missense	probably damaging	0.99
R4907:Spata21	UTSW	4	140,824,432 (GRCm39)	critical splice donor site	probably null
R4921:Spata21	UTSW	4	140,839,402 (GRCm39)	missense	probably damaging	1.00
R5269:Spata21	UTSW	4	140,830,332 (GRCm39)	missense	probably damaging	1.00
R5602:Spata21	UTSW	4	140,824,210 (GRCm39)	missense	probably benign
R6982:Spata21	UTSW	4	140,824,184 (GRCm39)	missense	possibly damaging	0.71
R7503:Spata21	UTSW	4	140,822,614 (GRCm39)	missense	probably benign	0.05
R7809:Spata21	UTSW	4	140,831,354 (GRCm39)	missense	probably null	0.83
R8072:Spata21	UTSW	4	140,839,317 (GRCm39)	nonsense	probably null
R8695:Spata21	UTSW	4	140,838,755 (GRCm39)	critical splice donor site	probably null
R8703:Spata21	UTSW	4	140,832,218 (GRCm39)	missense	probably benign	0.01
R8940:Spata21	UTSW	4	140,832,216 (GRCm39)	missense	probably damaging	1.00
R9462:Spata21	UTSW	4	140,831,316 (GRCm39)	missense	probably damaging	1.00
R9601:Spata21	UTSW	4	140,822,467 (GRCm39)	missense	possibly damaging	0.93
Z1177:Spata21	UTSW	4	140,825,313 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCAGCGTCACGGTTACAAG -3'
(R):5'- AGCATTTCCACCAGCAGAG -3'

Sequencing Primer
(F):5'- TCACGGTTACAAGCCCTGG -3'
(R):5'- TTTCCACCAGCAGAGAGAGGATC -3'

Posted On

2016-08-04