Incidental Mutation 'IGL00900:Ssfa2'
ID278052
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: 0.634) question?
Stock #IGL00900
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably 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
IGL00902: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
R7923:Ssfa2 UTSW 2 79662615 nonsense probably null
R8155:Ssfa2 UTSW 2 79644833 missense probably benign 0.01
R8175:Ssfa2 UTSW 2 79658152 missense probably damaging 1.00
R8237:Ssfa2 UTSW 2 79657270 missense probably benign 0.01
R8341:Ssfa2 UTSW 2 79657718 missense probably damaging 1.00
R8353:Ssfa2 UTSW 2 79644785 missense probably benign 0.01
R8364:Ssfa2 UTSW 2 79651443 missense probably damaging 0.99
R8365:Ssfa2 UTSW 2 79662345 missense probably damaging 1.00
R8453:Ssfa2 UTSW 2 79644785 missense probably benign 0.01
R8507:Ssfa2 UTSW 2 79644864 missense probably benign
Posted On2015-04-16