Incidental Mutation 'IGL02257:Specc1'
ID 286613
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 # IGL02257
Quality Score
Status
Chromosome 11
Chromosomal Location 61847589-62113839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62009243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 333 (I333N)
Ref Sequence ENSEMBL: ENSMUSP00000144311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049836] [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000201624] [ENSMUST00000202905] [ENSMUST00000201723] [ENSMUST00000202179] [ENSMUST00000202178] [ENSMUST00000202389] [ENSMUST00000201671] [ENSMUST00000202744]
AlphaFold Q5SXY1
Predicted Effect probably damaging
Transcript: ENSMUST00000049836
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000092415
AA Change: I253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: I253N

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 damaging
Transcript: ENSMUST00000108709
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: I333N

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
SMART Domains Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331

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 damaging
Transcript: ENSMUST00000201364
AA Change: I333N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000201624
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000202905
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000201723
AA Change: I253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: I253N

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 damaging
Transcript: ENSMUST00000202179
AA Change: I253N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: I253N

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
Predicted Effect probably damaging
Transcript: ENSMUST00000202178
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000202389
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: I333N

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 damaging
Transcript: ENSMUST00000201671
AA Change: I333N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: I333N

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 noncoding transcript
Transcript: ENSMUST00000201866
Predicted Effect probably benign
Transcript: ENSMUST00000202744
SMART Domains Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331

DomainStartEndE-ValueType
coiled coil region 23 113 N/A INTRINSIC
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat C T 11: 116,486,535 (GRCm39) Q25* probably null Het
Adam8 A T 7: 139,567,561 (GRCm39) V394D possibly damaging Het
Ahnak2 A G 12: 112,748,905 (GRCm39) F314S possibly damaging Het
Arsg T C 11: 109,412,473 (GRCm39) probably benign Het
Atp13a2 T G 4: 140,733,400 (GRCm39) V958G probably benign Het
Ces5a T C 8: 94,252,226 (GRCm39) D218G probably benign Het
Cntnap4 T A 8: 113,343,126 (GRCm39) L63Q probably damaging Het
Cped1 A G 6: 22,145,606 (GRCm39) T655A possibly damaging Het
Ddc A T 11: 11,823,171 (GRCm39) L133* probably null Het
Fat4 C T 3: 39,055,288 (GRCm39) A4169V probably benign Het
Gnpat T C 8: 125,613,587 (GRCm39) probably benign Het
Gpd2 A G 2: 57,254,536 (GRCm39) D678G probably benign Het
Hk1 T C 10: 62,107,422 (GRCm39) D851G probably benign Het
Hsd11b2 G A 8: 106,249,854 (GRCm39) V322I probably benign Het
Hsd17b3 G A 13: 64,207,276 (GRCm39) T255M probably benign Het
Hsp90b1 T C 10: 86,534,453 (GRCm39) S284G probably damaging Het
Med1 T A 11: 98,071,096 (GRCm39) I69L probably damaging Het
Mmut C T 17: 41,249,625 (GRCm39) T200I possibly damaging Het
Morn3 T G 5: 123,175,788 (GRCm39) D200A probably damaging Het
Mtss1 A G 15: 58,828,394 (GRCm39) V173A probably damaging Het
Myl6b T C 10: 128,333,210 (GRCm39) probably benign Het
Nin A G 12: 70,149,465 (GRCm39) V48A possibly damaging Het
Odr4 A T 1: 150,262,155 (GRCm39) I95N probably damaging Het
Or10w1 G A 19: 13,632,629 (GRCm39) V279I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Phlpp2 T A 8: 110,646,731 (GRCm39) V529E possibly damaging Het
Pnlip G A 19: 58,662,306 (GRCm39) V151I probably benign Het
Pus7 A C 5: 23,967,459 (GRCm39) H247Q probably damaging Het
Setd6 T C 8: 96,443,320 (GRCm39) Y188H probably damaging Het
Siglecg T C 7: 43,061,328 (GRCm39) S444P probably benign Het
Sox9 C A 11: 112,675,811 (GRCm39) H333Q possibly damaging Het
Tmprss11e G A 5: 86,872,039 (GRCm39) T59I probably damaging Het
Vmn2r93 A C 17: 18,545,770 (GRCm39) probably benign Het
Vrk2 A T 11: 26,484,266 (GRCm39) V163D probably 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
IGL02244:Specc1 APN 11 62,019,194 (GRCm39) missense probably benign 0.41
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