Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02110:Spata6'

280098

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spata6

Ensembl Gene

ENSMUSG00000034401

Gene Name

spermatogenesis associated 6

Synonyms

KRP, 1700062C23Rik, Hash

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02110

Quality Score

Status

Chromosome

Chromosomal Location

111577151-111686339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111642003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 291 (H291L)

Ref Sequence

ENSEMBL: ENSMUSP00000036964 (fasta)

Gene Model

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

AlphaFold

Q3U6K5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038868
AA Change: H291L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036964
Gene: ENSMUSG00000034401
AA Change: H291L

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: H291L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081383
Gene: ENSMUSG00000034401
AA Change: H291L

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

noncoding transcript
Transcript: ENSMUST00000122820

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125999

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149834

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	A	G	15: 77,598,548 (GRCm39)		probably null	Het
Arhgef40	C	T	14: 52,226,862 (GRCm39)	T302M	probably damaging	Het
Bap1	T	C	14: 30,979,371 (GRCm39)	L458P	probably damaging	Het
Bbs12	A	G	3: 37,373,336 (GRCm39)	E43G	probably benign	Het
Bod1l	C	T	5: 41,973,796 (GRCm39)	C2506Y	probably damaging	Het
Ccdc170	A	G	10: 4,491,885 (GRCm39)		probably null	Het
Chpf2	A	G	5: 24,796,710 (GRCm39)	E552G	probably damaging	Het
Comp	T	A	8: 70,826,289 (GRCm39)	I23N	probably benign	Het
Cxcl2	T	C	5: 91,052,211 (GRCm39)		probably benign	Het
Dctn5	T	C	7: 121,734,374 (GRCm39)	F73L	probably damaging	Het
Ddx5	T	C	11: 106,675,835 (GRCm39)	E285G	probably damaging	Het
Ddx60	T	G	8: 62,470,281 (GRCm39)		probably null	Het
Dhcr24	T	A	4: 106,430,998 (GRCm39)	I229N	probably damaging	Het
Dnah7a	G	A	1: 53,450,739 (GRCm39)	T3897I	possibly damaging	Het
Dvl2	T	A	11: 69,898,842 (GRCm39)		probably benign	Het
Dytn	A	T	1: 63,686,632 (GRCm39)	V346E	possibly damaging	Het
Eepd1	T	C	9: 25,514,698 (GRCm39)		probably benign	Het
Fbln2	G	T	6: 91,211,084 (GRCm39)	A343S	probably benign	Het
Flywch1	T	C	17: 23,982,066 (GRCm39)		probably null	Het
Gckr	A	T	5: 31,456,082 (GRCm39)	T81S	possibly damaging	Het
Gm6139	T	A	5: 129,700,656 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,372,530 (GRCm39)	C657*	probably null	Het
Greb1l	A	G	18: 10,515,271 (GRCm39)	I89V	probably damaging	Het
Hdac4	G	A	1: 91,912,127 (GRCm39)	P421S	probably benign	Het
Iqca1l	A	G	5: 24,753,082 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,374,039 (GRCm39)	L669P	probably benign	Het
Mios	A	G	6: 8,215,565 (GRCm39)	R254G	probably damaging	Het
Mmp19	A	G	10: 128,630,727 (GRCm39)	N116D	probably damaging	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nadsyn1	T	C	7: 143,367,164 (GRCm39)	Y141C	probably damaging	Het
Nlrp4d	T	C	7: 10,116,491 (GRCm39)		noncoding transcript	Het
Nob1	A	T	8: 108,142,804 (GRCm39)	*160R	probably null	Het
Or10ac1	A	G	6: 42,515,113 (GRCm39)	V281A	possibly damaging	Het
Or1f12	T	A	13: 21,722,112 (GRCm39)	Q21L	possibly damaging	Het
Or1j17	A	G	2: 36,578,697 (GRCm39)	T228A	probably benign	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or51s1	C	T	7: 102,558,402 (GRCm39)	V215I	probably benign	Het
Or56b1b	C	A	7: 108,164,286 (GRCm39)	A239S	probably damaging	Het
Phc1	T	C	6: 122,298,994 (GRCm39)	D658G	possibly damaging	Het
Pitx2	T	G	3: 129,012,466 (GRCm39)	S299A	probably damaging	Het
Plekha7	C	A	7: 115,753,863 (GRCm39)		probably null	Het
Ptgfr	A	G	3: 151,541,097 (GRCm39)	V137A	probably damaging	Het
Ptprb	T	C	10: 116,167,108 (GRCm39)		probably benign	Het
Rasl2-9	C	T	7: 5,128,346 (GRCm39)	A195T	probably benign	Het
Ripor3	T	A	2: 167,836,626 (GRCm39)	Q121L	possibly damaging	Het
Sgsh	G	T	11: 119,243,632 (GRCm39)	A30E	probably damaging	Het
Sis	G	T	3: 72,836,032 (GRCm39)	C852*	probably null	Het
Slc17a9	A	G	2: 180,374,369 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,607 (GRCm39)		noncoding transcript	Het
Smarca2	A	G	19: 26,650,140 (GRCm39)	Y704C	possibly damaging	Het
Stra8	T	C	6: 34,907,289 (GRCm39)		probably benign	Het
Taldo1	T	C	7: 140,982,647 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,868,219 (GRCm39)		probably benign	Het
Tmpo	A	C	10: 90,998,727 (GRCm39)	S353R	probably damaging	Het
Tpr	A	T	1: 150,311,493 (GRCm39)	Q1757L	probably damaging	Het
Ubn1	T	C	16: 4,899,754 (GRCm39)		probably benign	Het
Vmn2r83	T	C	10: 79,327,534 (GRCm39)	V714A	possibly damaging	Het
Zfp407	G	T	18: 84,577,165 (GRCm39)	A1316D	probably benign	Het
Zzef1	T	A	11: 72,803,938 (GRCm39)	I2560N	probably damaging	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
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
R7406:Spata6	UTSW	4	111,638,017 (GRCm39)	missense	possibly damaging	0.70
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

Posted On

2015-04-16