Incidental Mutation 'IGL02244:Specc1'
ID 286116
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Specc1
Ensembl Gene ENSMUSG00000042331
Gene Name sperm antigen with calponin homology and coiled-coil domains 1
Synonyms Cytsb, 2810012G08Rik, B230396K10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL02244
Quality Score
Status
Chromosome 11
Chromosomal Location 61847589-62113839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62019194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 678 (V678I)
Ref Sequence ENSEMBL: ENSMUSP00000143853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049836] [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000201624] [ENSMUST00000201723] [ENSMUST00000202178] [ENSMUST00000202905] [ENSMUST00000201671] [ENSMUST00000202744] [ENSMUST00000202389] [ENSMUST00000202179]
AlphaFold Q5SXY1
Predicted Effect probably benign
Transcript: ENSMUST00000049836
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092415
AA Change: V598I

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: V598I

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
coiled coil region 79 116 N/A INTRINSIC
coiled coil region 144 179 N/A INTRINSIC
low complexity region 231 236 N/A INTRINSIC
coiled coil region 282 374 N/A INTRINSIC
coiled coil region 399 440 N/A INTRINSIC
coiled coil region 495 693 N/A INTRINSIC
low complexity region 805 816 N/A INTRINSIC
low complexity region 832 844 N/A INTRINSIC
CH 883 981 2.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108709
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
low complexity region 885 896 N/A INTRINSIC
low complexity region 912 924 N/A INTRINSIC
CH 963 1061 2.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201015
AA Change: V18I

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: V18I

DomainStartEndE-ValueType
coiled coil region 23 113 N/A INTRINSIC
low complexity region 225 236 N/A INTRINSIC
low complexity region 252 264 N/A INTRINSIC
CH 303 401 1.4e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201364
AA Change: V678I

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
low complexity region 876 887 N/A INTRINSIC
low complexity region 903 915 N/A INTRINSIC
CH 954 1052 2.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201624
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000201723
AA Change: V598I

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: V598I

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
coiled coil region 79 116 N/A INTRINSIC
coiled coil region 144 179 N/A INTRINSIC
low complexity region 231 236 N/A INTRINSIC
coiled coil region 282 374 N/A INTRINSIC
coiled coil region 399 440 N/A INTRINSIC
coiled coil region 495 693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202178
AA Change: V678I

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202905
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
low complexity region 885 896 N/A INTRINSIC
low complexity region 912 924 N/A INTRINSIC
CH 963 1061 2.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201671
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202744
AA Change: V18I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331
AA Change: V18I

DomainStartEndE-ValueType
coiled coil region 23 113 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202389
AA Change: V678I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: V678I

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 123 143 N/A INTRINSIC
coiled coil region 159 196 N/A INTRINSIC
coiled coil region 224 259 N/A INTRINSIC
low complexity region 311 316 N/A INTRINSIC
coiled coil region 362 454 N/A INTRINSIC
coiled coil region 479 520 N/A INTRINSIC
coiled coil region 575 773 N/A INTRINSIC
low complexity region 885 896 N/A INTRINSIC
low complexity region 912 924 N/A INTRINSIC
CH 963 1061 2.69e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202179
AA Change: V598I

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: V598I

DomainStartEndE-ValueType
low complexity region 43 63 N/A INTRINSIC
coiled coil region 79 116 N/A INTRINSIC
coiled coil region 144 179 N/A INTRINSIC
low complexity region 231 236 N/A INTRINSIC
coiled coil region 282 374 N/A INTRINSIC
coiled coil region 399 440 N/A INTRINSIC
coiled coil region 495 693 N/A INTRINSIC
low complexity region 796 807 N/A INTRINSIC
low complexity region 823 835 N/A INTRINSIC
CH 874 972 2.69e-16 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Specc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00156:Specc1 APN 11 62,008,835 (GRCm39) missense probably benign 0.02
IGL01953:Specc1 APN 11 62,009,122 (GRCm39) missense probably benign 0.40
IGL02257:Specc1 APN 11 62,009,243 (GRCm39) missense probably damaging 1.00
IGL02512:Specc1 APN 11 62,009,215 (GRCm39) missense probably damaging 1.00
IGL03147:Specc1 UTSW 11 62,009,108 (GRCm39) missense probably benign
R0039:Specc1 UTSW 11 61,920,195 (GRCm39) missense probably damaging 0.97
R0114:Specc1 UTSW 11 62,037,139 (GRCm39) missense possibly damaging 0.92
R0635:Specc1 UTSW 11 62,009,729 (GRCm39) missense probably damaging 1.00
R1514:Specc1 UTSW 11 62,047,358 (GRCm39) missense probably damaging 1.00
R1604:Specc1 UTSW 11 61,933,883 (GRCm39) missense probably damaging 1.00
R1717:Specc1 UTSW 11 62,019,218 (GRCm39) missense possibly damaging 0.88
R1719:Specc1 UTSW 11 62,019,218 (GRCm39) missense possibly damaging 0.88
R1739:Specc1 UTSW 11 62,009,644 (GRCm39) nonsense probably null
R1757:Specc1 UTSW 11 62,010,110 (GRCm39) critical splice donor site probably null
R1990:Specc1 UTSW 11 61,920,120 (GRCm39) missense possibly damaging 0.87
R1991:Specc1 UTSW 11 61,920,120 (GRCm39) missense possibly damaging 0.87
R2063:Specc1 UTSW 11 62,009,122 (GRCm39) missense probably benign 0.01
R2071:Specc1 UTSW 11 62,008,701 (GRCm39) missense probably damaging 0.98
R2245:Specc1 UTSW 11 62,022,713 (GRCm39) missense probably damaging 1.00
R3415:Specc1 UTSW 11 62,009,245 (GRCm39) missense probably benign 0.29
R3831:Specc1 UTSW 11 62,008,793 (GRCm39) missense probably damaging 1.00
R3890:Specc1 UTSW 11 62,042,739 (GRCm39) missense probably benign 0.00
R3891:Specc1 UTSW 11 62,042,739 (GRCm39) missense probably benign 0.00
R4367:Specc1 UTSW 11 62,009,356 (GRCm39) missense probably damaging 1.00
R4489:Specc1 UTSW 11 62,042,653 (GRCm39) splice site probably null
R4580:Specc1 UTSW 11 62,110,157 (GRCm39) missense probably damaging 1.00
R4852:Specc1 UTSW 11 62,102,510 (GRCm39) missense probably damaging 1.00
R4930:Specc1 UTSW 11 62,009,784 (GRCm39) missense possibly damaging 0.93
R5016:Specc1 UTSW 11 62,009,783 (GRCm39) missense possibly damaging 0.92
R5416:Specc1 UTSW 11 62,009,735 (GRCm39) missense probably benign 0.00
R5650:Specc1 UTSW 11 62,008,793 (GRCm39) missense probably damaging 1.00
R6158:Specc1 UTSW 11 62,008,950 (GRCm39) missense probably damaging 0.99
R6329:Specc1 UTSW 11 62,047,379 (GRCm39) missense probably damaging 1.00
R6374:Specc1 UTSW 11 62,047,418 (GRCm39) missense possibly damaging 0.93
R6395:Specc1 UTSW 11 62,023,164 (GRCm39) missense probably damaging 1.00
R6653:Specc1 UTSW 11 62,037,244 (GRCm39) missense probably damaging 0.99
R6893:Specc1 UTSW 11 62,023,279 (GRCm39) missense probably benign
R6898:Specc1 UTSW 11 62,009,162 (GRCm39) missense probably benign
R7054:Specc1 UTSW 11 62,008,604 (GRCm39) missense probably damaging 0.96
R7294:Specc1 UTSW 11 62,009,163 (GRCm39) missense probably benign 0.01
R7376:Specc1 UTSW 11 62,009,078 (GRCm39) missense probably benign 0.06
R7560:Specc1 UTSW 11 62,019,235 (GRCm39) critical splice donor site probably null
R7605:Specc1 UTSW 11 62,102,506 (GRCm39) missense possibly damaging 0.91
R7621:Specc1 UTSW 11 62,019,210 (GRCm39) missense possibly damaging 0.96
R7804:Specc1 UTSW 11 62,096,223 (GRCm39) missense probably damaging 0.99
R7900:Specc1 UTSW 11 62,110,187 (GRCm39) missense probably damaging 1.00
R8310:Specc1 UTSW 11 62,023,171 (GRCm39) missense probably damaging 1.00
R8319:Specc1 UTSW 11 62,009,501 (GRCm39) missense possibly damaging 0.77
R9081:Specc1 UTSW 11 62,010,051 (GRCm39) missense possibly damaging 0.55
R9109:Specc1 UTSW 11 62,102,464 (GRCm39) splice site probably null
R9361:Specc1 UTSW 11 62,037,144 (GRCm39) missense probably benign
Z1177:Specc1 UTSW 11 62,096,249 (GRCm39) missense possibly damaging 0.84
Z1177:Specc1 UTSW 11 62,009,593 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16