Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Ssfa2'

278054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ssfa2

Ensembl Gene

ENSMUSG00000027007

Gene Name

sperm specific antigen 2

Synonyms

CS1, CS-1, SPAG13, KRAP

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.505) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

79635352-79672966 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79660478 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 980 (R980Q)

Ref Sequence

ENSEMBL: ENSMUSP00000107415 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111784] [ENSMUST00000111785] [ENSMUST00000111788]

Predicted Effect

probably damaging
Transcript: ENSMUST00000111784
AA Change: R980Q

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107414
Gene: ENSMUSG00000027007
AA Change: R980Q

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	858	1029	7.5e-88	PFAM
low complexity region	1081	1095	N/A	INTRINSIC
low complexity region	1144	1156	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111785
AA Change: R980Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107415
Gene: ENSMUSG00000027007
AA Change: R980Q

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	861	1029	8.9e-83	PFAM
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1166	1178	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111788
AA Change: R980Q

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107418
Gene: ENSMUSG00000027007
AA Change: R980Q

Domain	Start	End	E-Value	Type
low complexity region	35	57	N/A	INTRINSIC
KRAP_IP3R_bind	144	302	6.78e-81	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	423	445	N/A	INTRINSIC
low complexity region	743	759	N/A	INTRINSIC
Pfam:SSFA2_C	858	1029	7.4e-88	PFAM
low complexity region	1103	1117	N/A	INTRINSIC
low complexity region	1166	1178	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133266

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display decreased body weight, resistance to diet induced obesity, increased food intake, decreased adipose tissue mass, elevated metabolic rate, abnormal glucose homeostasis, and abnormal hormone levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,717,112	F523S	probably damaging	Het
Dbnl	G	T	11: 5,798,105	A313S	probably benign	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Ric1	T	C	19: 29,567,231	V151A	probably benign	Het
Sgo2a	A	G	1: 58,016,099	T481A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Snx19	A	T	9: 30,428,732	I389F	possibly damaging	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly damaging	Het

Other mutations in Ssfa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Ssfa2	APN	2	79657268	missense	possibly damaging	0.94
IGL00792:Ssfa2	APN	2	79657463	missense	probably benign	0.01
IGL00900:Ssfa2	APN	2	79660478	missense	probably damaging	1.00
IGL01682:Ssfa2	APN	2	79635637	missense	probably damaging	1.00
IGL01683:Ssfa2	APN	2	79670725	intron	probably benign
IGL01832:Ssfa2	APN	2	79651418	missense	possibly damaging	0.94
IGL02253:Ssfa2	APN	2	79660444	missense	probably damaging	1.00
IGL02342:Ssfa2	APN	2	79660285	missense	probably benign	0.01
IGL02420:Ssfa2	APN	2	79635642	missense	probably damaging	0.99
IGL02445:Ssfa2	APN	2	79657498	missense	probably damaging	0.98
IGL02649:Ssfa2	APN	2	79641959	splice site	probably benign
IGL03242:Ssfa2	APN	2	79643471	nonsense	probably null
IGL03266:Ssfa2	APN	2	79642190	critical splice donor site	probably null
IGL03342:Ssfa2	APN	2	79660452	missense	probably damaging	1.00
IGL03352:Ssfa2	APN	2	79645101	missense	probably damaging	1.00
R0255:Ssfa2	UTSW	2	79660466	missense	probably damaging	1.00
R0526:Ssfa2	UTSW	2	79657346	missense	probably benign	0.01
R0543:Ssfa2	UTSW	2	79644506	missense	possibly damaging	0.79
R1114:Ssfa2	UTSW	2	79657529	missense	probably damaging	1.00
R1701:Ssfa2	UTSW	2	79636050	missense	probably damaging	1.00
R1734:Ssfa2	UTSW	2	79657822	missense	probably damaging	1.00
R1945:Ssfa2	UTSW	2	79662652	missense	probably benign	0.03
R2188:Ssfa2	UTSW	2	79644923	missense	probably benign	0.01
R2941:Ssfa2	UTSW	2	79635656	missense	probably benign	0.19
R4087:Ssfa2	UTSW	2	79658347	nonsense	probably null
R4107:Ssfa2	UTSW	2	79644831	missense	probably damaging	0.97
R4355:Ssfa2	UTSW	2	79641998	missense	probably benign	0.02
R4497:Ssfa2	UTSW	2	79657820	missense	probably damaging	1.00
R4615:Ssfa2	UTSW	2	79662382	missense	probably damaging	0.99
R4726:Ssfa2	UTSW	2	79662757	missense	probably damaging	1.00
R5818:Ssfa2	UTSW	2	79644593	missense	probably damaging	1.00
R5889:Ssfa2	UTSW	2	79657728	missense	probably damaging	1.00
R6169:Ssfa2	UTSW	2	79645062	missense	probably damaging	0.99
R6337:Ssfa2	UTSW	2	79655119	missense	probably damaging	1.00
R6677:Ssfa2	UTSW	2	79655101	missense	possibly damaging	0.92
R6709:Ssfa2	UTSW	2	79644932	missense	probably benign	0.00
R6855:Ssfa2	UTSW	2	79657705	missense	probably damaging	1.00
R6856:Ssfa2	UTSW	2	79657705	missense	probably damaging	1.00
R7075:Ssfa2	UTSW	2	79635660	missense	probably damaging	0.99
R7319:Ssfa2	UTSW	2	79636072	missense	probably damaging	1.00
R7414:Ssfa2	UTSW	2	79644728	missense	possibly damaging	0.95
R7590:Ssfa2	UTSW	2	79658110	missense	possibly damaging	0.88
R7722:Ssfa2	UTSW	2	79662345	missense	probably damaging	1.00

Posted On

2015-04-16