Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Spaca9'

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283084

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spaca9

Ensembl Gene

ENSMUSG00000026809

Gene Name

sperm acrosome associated 9

Synonyms

Mast, 1700026L06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

28692080-28699727 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28695924 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 43 (I43V)

Ref Sequence

ENSEMBL: ENSMUSP00000121846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028155] [ENSMUST00000074156] [ENSMUST00000102877] [ENSMUST00000113867] [ENSMUST00000113869] [ENSMUST00000113870] [ENSMUST00000124840]

Predicted Effect

probably benign
Transcript: ENSMUST00000028155

SMART Domains

Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074156

SMART Domains

Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807

Domain	Start	End	E-Value	Type
Pfam:AAA_33	60	186	6.2e-8	PFAM
Pfam:AAA_18	60	191	2.3e-9	PFAM
Pfam:ADK	62	237	5.5e-16	PFAM
Pfam:ADK	273	452	1.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102877
AA Change: I43V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099941
Gene: ENSMUSG00000026809
AA Change: I43V

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	166	1.5e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113867

SMART Domains

Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	710	7.3e-279	PFAM
SCOP:d1eq1a_	718	881	6e-11	SMART
low complexity region	969	985	N/A	INTRINSIC
low complexity region	1020	1037	N/A	INTRINSIC
low complexity region	1094	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113869

SMART Domains

Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	7	716	6e-279	PFAM
SCOP:d1eq1a_	724	887	4e-11	SMART
low complexity region	975	991	N/A	INTRINSIC
low complexity region	1026	1043	N/A	INTRINSIC
low complexity region	1100	1118	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113870

SMART Domains

Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812

Domain	Start	End	E-Value	Type
Pfam:Hamartin	2	715	2.2e-281	PFAM
SCOP:d1eq1a_	723	886	4e-11	SMART
low complexity region	974	990	N/A	INTRINSIC
low complexity region	1025	1042	N/A	INTRINSIC
low complexity region	1099	1117	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123794

Predicted Effect

probably benign
Transcript: ENSMUST00000124840
AA Change: I43V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121846
Gene: ENSMUSG00000026809
AA Change: I43V

Domain	Start	End	E-Value	Type
Pfam:DUF4561	1	167	4.1e-88	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145014

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Spaca9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02641:Spaca9	APN	2	28695951	nonsense	probably null
R0376:Spaca9	UTSW	2	28693660	missense	probably benign	0.05
R0452:Spaca9	UTSW	2	28695993	missense	probably damaging	1.00
R0496:Spaca9	UTSW	2	28693010	missense	probably damaging	0.98
R2020:Spaca9	UTSW	2	28696001	missense	probably damaging	0.99
R4244:Spaca9	UTSW	2	28692986	missense	probably benign	0.25
R6145:Spaca9	UTSW	2	28693781	missense	probably damaging	1.00
R6146:Spaca9	UTSW	2	28693781	missense	probably damaging	1.00
R6148:Spaca9	UTSW	2	28693781	missense	probably damaging	1.00
R7935:Spaca9	UTSW	2	28693622	critical splice donor site	probably null

Posted On

2015-04-16