Incidental Mutation 'R3415:Specc1'
ID 266774
Institutional Source Beutler Lab
Gene Symbol Specc1
Ensembl Gene ENSMUSG00000042331
Gene Name sperm antigen with calponin homology and coiled-coil domains 1
Synonyms Cytsb, 2810012G08Rik, B230396K10Rik
MMRRC Submission 040633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R3415 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61847589-62113839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62009245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 334 (T334A)
Ref Sequence ENSEMBL: ENSMUSP00000144161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049836] [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000201624] [ENSMUST00000201671] [ENSMUST00000202179] [ENSMUST00000201723] [ENSMUST00000202178] [ENSMUST00000202389] [ENSMUST00000202905] [ENSMUST00000202744]
AlphaFold Q5SXY1
Predicted Effect probably benign
Transcript: ENSMUST00000049836
AA Change: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063102
Gene: ENSMUSG00000042331
AA Change: T334A

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: T254A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: T254A

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: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: T334A

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 benign
Transcript: ENSMUST00000201364
AA Change: T334A

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: T334A

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: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144659
Gene: ENSMUSG00000042331
AA Change: T334A

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: ENSMUST00000201671
AA Change: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144030
Gene: ENSMUSG00000042331
AA Change: T334A

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: ENSMUST00000202179
AA Change: T254A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: T254A

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 benign
Transcript: ENSMUST00000201723
AA Change: T254A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144542
Gene: ENSMUSG00000042331
AA Change: T254A

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 noncoding transcript
Transcript: ENSMUST00000201866
Predicted Effect probably benign
Transcript: ENSMUST00000202178
AA Change: T334A

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144161
Gene: ENSMUSG00000042331
AA Change: T334A

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: ENSMUST00000202389
AA Change: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: T334A

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: ENSMUST00000202905
AA Change: T334A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: T334A

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: ENSMUST00000202744
SMART Domains Protein: ENSMUSP00000144483
Gene: ENSMUSG00000042331

DomainStartEndE-ValueType
coiled coil region 23 113 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc39 C G 3: 33,868,646 (GRCm39) L813F probably benign Het
Cdh13 A T 8: 119,401,946 (GRCm39) D116V probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Chga A G 12: 102,529,043 (GRCm39) E340G probably benign Het
Cmip T A 8: 118,076,116 (GRCm39) probably null Het
Cnga4 A G 7: 105,056,325 (GRCm39) Y309C probably damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Dph6 C T 2: 114,348,768 (GRCm39) V267I probably benign Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Ifi203 G A 1: 173,756,326 (GRCm39) R486* probably null Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lims2 A T 18: 32,077,208 (GRCm39) Y58F probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Mark4 T C 7: 19,185,650 (GRCm39) D28G probably benign Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mmp1a A T 9: 7,464,869 (GRCm39) K34N possibly damaging Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
P2rx5 G T 11: 73,051,486 (GRCm39) V22L possibly damaging Het
Pnma8a A G 7: 16,694,879 (GRCm39) R245G possibly damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tm7sf2 A G 19: 6,113,629 (GRCm39) Y301H probably damaging Het
Unc13c G T 9: 73,839,868 (GRCm39) H328N probably benign Het
Zfp641 T C 15: 98,188,421 (GRCm39) D153G probably benign Het
Zp3 A G 5: 136,014,514 (GRCm39) T278A probably benign Het
Zscan2 T A 7: 80,525,150 (GRCm39) S290R 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCAGAAGGGGCAGCAAGTC -3'
(R):5'- ATAATTCCTGCAGAGTAGCCTG -3'

Sequencing Primer
(F):5'- GCAGCAAGTCACACTGGTG -3'
(R):5'- GGACAGCTCACTTGCATT -3'
Posted On 2015-02-18