Incidental Mutation 'R1514:Specc1'
ID 168632
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 039561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R1514 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61847589-62113839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62047358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 909 (L909H)
Ref Sequence ENSEMBL: ENSMUSP00000144311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092415] [ENSMUST00000108709] [ENSMUST00000201015] [ENSMUST00000201364] [ENSMUST00000202179] [ENSMUST00000202389] [ENSMUST00000202905]
AlphaFold Q5SXY1
Predicted Effect possibly damaging
Transcript: ENSMUST00000092415
AA Change: L829H

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090071
Gene: ENSMUSG00000042331
AA Change: L829H

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: L909H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104349
Gene: ENSMUSG00000042331
AA Change: L909H

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: L249H

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144174
Gene: ENSMUSG00000042331
AA Change: L249H

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: L900H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143853
Gene: ENSMUSG00000042331
AA Change: L900H

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: ENSMUST00000202179
AA Change: L820H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144300
Gene: ENSMUSG00000042331
AA Change: L820H

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: L909H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144055
Gene: ENSMUSG00000042331
AA Change: L909H

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: L909H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144311
Gene: ENSMUSG00000042331
AA Change: L909H

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
Meta Mutation Damage Score 0.1019 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,448,729 (GRCm39) L147Q probably damaging Het
Aadacl4fm5 T C 4: 144,504,329 (GRCm39) N274S probably damaging Het
Abcb1a A G 5: 8,724,791 (GRCm39) T75A possibly damaging Het
Acvr1 A T 2: 58,337,597 (GRCm39) L495* probably null Het
Add1 T C 5: 34,767,961 (GRCm39) I240T probably benign Het
Adgra2 C A 8: 27,611,306 (GRCm39) S870* probably null Het
Amer3 G A 1: 34,618,408 (GRCm39) probably benign Het
Baz2b A T 2: 59,792,670 (GRCm39) V486D probably benign Het
Bcorl1 T A X: 47,494,821 (GRCm39) D1697E probably damaging Het
Cenpf T C 1: 189,411,338 (GRCm39) D282G possibly damaging Het
Cep112 A G 11: 108,362,880 (GRCm39) D200G probably damaging Het
Clec4a4 C T 6: 122,967,401 (GRCm39) P26S probably benign Het
Crygf A C 1: 65,967,197 (GRCm39) R102S possibly damaging Het
Cyp2b19 A T 7: 26,466,585 (GRCm39) E404D probably benign Het
Dcdc2a A G 13: 25,245,237 (GRCm39) I105V probably benign Het
Dus4l T C 12: 31,690,938 (GRCm39) M238V probably damaging Het
Eprs1 G A 1: 185,114,031 (GRCm39) M326I probably damaging Het
Evpl T C 11: 116,114,661 (GRCm39) T1010A probably benign Het
Fam124b T C 1: 80,178,148 (GRCm39) T284A possibly damaging Het
Glb1l2 A G 9: 26,680,420 (GRCm39) probably benign Het
Gm16223 T A 5: 42,225,298 (GRCm39) probably null Het
Gm4952 T A 19: 12,604,278 (GRCm39) M230K probably damaging Het
Gm5828 C A 1: 16,839,583 (GRCm39) noncoding transcript Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifna16 T A 4: 88,594,979 (GRCm39) T39S possibly damaging Het
Kcnc3 G A 7: 44,245,027 (GRCm39) G439D probably damaging Het
Kif1c T C 11: 70,596,555 (GRCm39) S257P probably damaging Het
Kng1 A G 16: 22,898,510 (GRCm39) K456E probably damaging Het
Lpxn T C 19: 12,801,414 (GRCm39) L142P probably damaging Het
Lratd1 C T 12: 14,199,864 (GRCm39) V288M probably damaging Het
Med23 A G 10: 24,768,565 (GRCm39) probably benign Het
Mks1 A T 11: 87,751,937 (GRCm39) D369V probably benign Het
Myo1d A T 11: 80,576,734 (GRCm39) Y114N probably damaging Het
Npas2 A G 1: 39,350,935 (GRCm39) D126G possibly damaging Het
Oga A G 19: 45,765,370 (GRCm39) S146P probably damaging Het
Onecut2 T C 18: 64,474,651 (GRCm39) F401L possibly damaging Het
Or10n1 T C 9: 39,524,992 (GRCm39) I43T probably damaging Het
Or10v1 A G 19: 11,873,978 (GRCm39) T198A probably benign Het
Or4f61 T C 2: 111,922,381 (GRCm39) I222V probably benign Het
Parp11 T A 6: 127,451,256 (GRCm39) F102Y possibly damaging Het
Pcnx1 C T 12: 81,965,572 (GRCm39) H580Y probably damaging Het
Pde3b A G 7: 114,130,001 (GRCm39) H852R probably damaging Het
Pira1 G A 7: 3,742,639 (GRCm39) T23I possibly damaging Het
Pou2af1 A G 9: 51,144,508 (GRCm39) T141A probably benign Het
Rgs22 A C 15: 36,013,246 (GRCm39) V1190G probably benign Het
Rnf112 T C 11: 61,341,236 (GRCm39) S450G probably benign Het
Rpgrip1l A T 8: 91,987,378 (GRCm39) I893N probably damaging Het
Rps3a1 A G 3: 86,045,834 (GRCm39) V210A probably benign Het
Runx2 C T 17: 45,046,224 (GRCm39) A114T possibly damaging Het
Sardh A G 2: 27,087,702 (GRCm39) V723A possibly damaging Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Secisbp2 A G 13: 51,836,131 (GRCm39) S742G possibly damaging Het
Selenow G T 7: 15,654,223 (GRCm39) probably benign Het
Slc30a4 A G 2: 122,531,334 (GRCm39) V226A probably damaging Het
Sntb2 A G 8: 107,718,164 (GRCm39) N291D probably damaging Het
Sorbs2 A G 8: 46,222,866 (GRCm39) T190A probably damaging Het
Spata31e5 T A 1: 28,817,829 (GRCm39) T68S possibly damaging Het
Sprr1b T C 3: 92,344,414 (GRCm39) *154W probably null Het
Taar4 T A 10: 23,836,510 (GRCm39) M40K possibly damaging Het
Ubr2 A T 17: 47,311,749 (GRCm39) L34H probably damaging Het
Ubxn6 T C 17: 56,376,003 (GRCm39) K386R probably benign Het
Vmn2r112 A T 17: 22,821,825 (GRCm39) T168S probably benign Het
Xirp2 A T 2: 67,344,667 (GRCm39) R2303* probably null Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp13 G T 17: 23,795,386 (GRCm39) T395K probably damaging Het
Zfp281 A G 1: 136,554,435 (GRCm39) N471S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GCCTGGAGATAGAAGATACCATGTCCC -3'
(R):5'- TGCTGTCATTCAGAAGTAAGCTGACTG -3'

Sequencing Primer
(F):5'- AGTATGATAACCAGATTACTCCCC -3'
(R):5'- TTCAGAAGTAAGCTGACTGTGGATG -3'
Posted On 2014-04-13