Incidental Mutation 'IGL00902:Ssfa2'
ID278054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssfa2
Ensembl Gene ENSMUSG00000027007
Gene Namesperm specific antigen 2
SynonymsCS1, CS-1, SPAG13, KRAP
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.505) question?
Stock #IGL00902
Quality Score
Status
Chromosome2
Chromosomal Location79635352-79672966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 79660478 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-04-16