Incidental Mutation 'R7605:Specc1'
ID 588253
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 045675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 61847589-62113839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62102506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 942 (S942G)
Ref Sequence ENSEMBL: ENSMUSP00000144300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000202179] [ENSMUST00000202389] [ENSMUST00000202905]
AlphaFold Q5SXY1
Predicted Effect probably damaging
Transcript: ENSMUST00000092415
AA Change: S951G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: S951G

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: S1031G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: S1031G

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: ENSMUST00000201015
AA Change: S371G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: S371G

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 possibly damaging
Transcript: ENSMUST00000201364
AA Change: S1022G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: S1022G

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 possibly damaging
Transcript: ENSMUST00000202179
AA Change: S942G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: S942G

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: ENSMUST00000202389
AA Change: S1031G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: S1031G

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: ENSMUST00000202905
AA Change: S1031G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: S1031G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,881,899 (GRCm39) L610P probably damaging Het
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Asphd2 A G 5: 112,539,807 (GRCm39) W9R probably damaging Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Casp6 A T 3: 129,705,812 (GRCm39) M160L probably benign Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Col24a1 A T 3: 145,244,442 (GRCm39) Y1572F possibly damaging Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Robo1 C A 16: 72,821,189 (GRCm39) R1310S probably benign Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V 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
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
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
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'- AGTTTGTCTCTAGTCATGTGTCAGC -3'
(R):5'- CTTGCATTCAGACCCACTGG -3'

Sequencing Primer
(F):5'- AGTCATGTGTCAGCCAATGTC -3'
(R):5'- CCCACTGGATAACTTTATACTAGGG -3'
Posted On 2019-10-24