Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Spata6'

574724

Institutional Source

Beutler Lab

Gene Symbol

Spata6

Ensembl Gene

ENSMUSG00000034401

Gene Name

spermatogenesis associated 6

Synonyms

KRP, 1700062C23Rik, Hash

MMRRC Submission

045487-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111577151-111686339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111638017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 282 (D282E)

Ref Sequence

ENSEMBL: ENSMUSP00000036964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038868] [ENSMUST00000084354] [ENSMUST00000153746]

AlphaFold

Q3U6K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038868
AA Change: D282E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: D282E

Domain	Start	End	E-Value	Type
Pfam:SPATA6	11	149	3.4e-56	PFAM
low complexity region	182	198	N/A	INTRINSIC
low complexity region	397	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000084354
AA Change: D282E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: D282E

Domain	Start	End	E-Value	Type
Pfam:SPATA6	10	149	1.9e-57	PFAM
low complexity region	182	198	N/A	INTRINSIC
low complexity region	377	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153746

SMART Domains

Protein: ENSMUSP00000114610
Gene: ENSMUSG00000034401

Domain	Start	End	E-Value	Type
Pfam:SPATA6	10	149	3e-58	PFAM

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit abnormal formation of the sperm connecting piece during late spermiogenesis, leading to acephalic spermatozoa and male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,249,391 (GRCm39)	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,462,380 (GRCm39)	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Or8b1b	T	A	9: 38,375,439 (GRCm39)	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,483,387 (GRCm39)	S229T	possibly damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Srek1	A	T	13: 103,905,890 (GRCm39)	V77E	probably damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	probably benign	Het

Other mutations in Spata6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Spata6	APN	4	111,663,125 (GRCm39)	splice site	probably benign
IGL02110:Spata6	APN	4	111,642,003 (GRCm39)	missense	possibly damaging	0.53
IGL03181:Spata6	APN	4	111,679,963 (GRCm39)	missense	probably benign	0.11
PIT4378001:Spata6	UTSW	4	111,603,378 (GRCm39)	missense	possibly damaging	0.71
R0043:Spata6	UTSW	4	111,638,002 (GRCm39)	missense	probably damaging	0.98
R1199:Spata6	UTSW	4	111,656,342 (GRCm39)	missense	possibly damaging	0.53
R1491:Spata6	UTSW	4	111,603,388 (GRCm39)	missense	probably damaging	0.99
R1548:Spata6	UTSW	4	111,636,203 (GRCm39)	missense	probably benign	0.18
R1582:Spata6	UTSW	4	111,637,994 (GRCm39)	missense	probably benign	0.00
R1582:Spata6	UTSW	4	111,637,992 (GRCm39)	nonsense	probably null
R4690:Spata6	UTSW	4	111,632,023 (GRCm39)	missense	probably damaging	1.00
R5123:Spata6	UTSW	4	111,625,992 (GRCm39)	missense	possibly damaging	0.71
R5360:Spata6	UTSW	4	111,680,026 (GRCm39)	missense	possibly damaging	0.96
R5373:Spata6	UTSW	4	111,680,031 (GRCm39)	critical splice donor site	probably null
R5396:Spata6	UTSW	4	111,656,315 (GRCm39)	missense	probably damaging	1.00
R5919:Spata6	UTSW	4	111,636,405 (GRCm39)	missense	probably damaging	0.96
R6017:Spata6	UTSW	4	111,632,024 (GRCm39)	missense	probably damaging	1.00
R6476:Spata6	UTSW	4	111,632,020 (GRCm39)	missense	probably damaging	1.00
R6573:Spata6	UTSW	4	111,636,476 (GRCm39)	missense	probably damaging	1.00
R6807:Spata6	UTSW	4	111,642,012 (GRCm39)	missense	probably benign	0.01
R7341:Spata6	UTSW	4	111,625,935 (GRCm39)	nonsense	probably null
R8116:Spata6	UTSW	4	111,685,517 (GRCm39)	missense	possibly damaging	0.96
R8745:Spata6	UTSW	4	111,636,476 (GRCm39)	missense	probably benign	0.18
R8965:Spata6	UTSW	4	111,680,009 (GRCm39)	nonsense	probably null
R9342:Spata6	UTSW	4	111,636,389 (GRCm39)	missense	possibly damaging	0.53
R9400:Spata6	UTSW	4	111,577,428 (GRCm39)	missense	probably benign	0.04
R9539:Spata6	UTSW	4	111,685,526 (GRCm39)	missense	possibly damaging	0.70
RF002:Spata6	UTSW	4	111,685,502 (GRCm39)	missense	probably benign
X0066:Spata6	UTSW	4	111,685,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGGAATTCACCTGCTGTG -3'
(R):5'- CTGAGTCATTTCACTATGGTGTTTC -3'

Sequencing Primer
(F):5'- CACCTGCTGTGTGGCATATGC -3'
(R):5'- AAGTGGGAAATGTGTTTCATAGTC -3'

Posted On

2019-10-07