Incidental Mutation 'IGL02539:Specc1l'
ID297644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Specc1l
Ensembl Gene ENSMUSG00000033444
Gene Namesperm antigen with calponin homology and coiled-coil domains 1-like
SynonymsCytsa, Specc1l
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.506) question?
Stock #IGL02539
Quality Score
Status
Chromosome10
Chromosomal Location75212073-75312743 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75267508 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 889 (I889L)
Ref Sequence ENSEMBL: ENSMUSP00000151322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040105] [ENSMUST00000105421] [ENSMUST00000218766]
Predicted Effect probably benign
Transcript: ENSMUST00000040105
AA Change: I906L

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045099
Gene: ENSMUSG00000033444
AA Change: I906L

DomainStartEndE-ValueType
low complexity region 97 107 N/A INTRINSIC
low complexity region 135 149 N/A INTRINSIC
coiled coil region 255 298 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
coiled coil region 412 467 N/A INTRINSIC
coiled coil region 505 825 N/A INTRINSIC
low complexity region 846 858 N/A INTRINSIC
low complexity region 989 1010 N/A INTRINSIC
CH 1031 1129 1.52e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105421
AA Change: I906L

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101061
Gene: ENSMUSG00000033444
AA Change: I906L

DomainStartEndE-ValueType
low complexity region 80 90 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
coiled coil region 238 281 N/A INTRINSIC
low complexity region 359 373 N/A INTRINSIC
coiled coil region 395 450 N/A INTRINSIC
coiled coil region 488 808 N/A INTRINSIC
low complexity region 829 841 N/A INTRINSIC
low complexity region 972 993 N/A INTRINSIC
CH 1014 1112 1.52e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000218766
AA Change: I889L

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219430
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 24,786,213 Y479* probably null Het
Btnl6 T C 17: 34,508,314 N414S probably benign Het
Ccdc180 A G 4: 45,921,005 N984D probably damaging Het
Cfc1 A T 1: 34,537,122 probably benign Het
Chrm1 G A 19: 8,678,311 V127M probably damaging Het
Dicer1 A G 12: 104,697,035 L1429P probably damaging Het
Erbb3 A G 10: 128,584,305 probably null Het
Evi5 T C 5: 107,815,665 E348G probably benign Het
Fat2 G A 11: 55,281,793 T2698I probably damaging Het
Gas2 A G 7: 51,897,290 D63G possibly damaging Het
Gm28042 A G 2: 120,035,221 D313G probably damaging Het
Hivep2 T A 10: 14,131,878 S1407T probably damaging Het
Ibsp T A 5: 104,302,283 M19K probably damaging Het
Itih3 C T 14: 30,912,664 D129N probably benign Het
Krtap4-8 A T 11: 99,780,370 probably benign Het
Mertk A G 2: 128,801,290 T870A probably damaging Het
Mtmr11 C A 3: 96,164,991 probably benign Het
Nbas C A 12: 13,272,703 probably benign Het
Nlrp4b A G 7: 10,714,428 D186G probably damaging Het
Olfm3 A G 3: 115,101,930 I154V possibly damaging Het
Olfr713 T A 7: 107,036,434 I93N probably damaging Het
Pdk2 T C 11: 95,032,495 K101R probably benign Het
Pds5a C T 5: 65,666,119 D110N probably damaging Het
Pex5 A T 6: 124,403,224 D288E probably benign Het
Pitrm1 A G 13: 6,568,756 D655G probably benign Het
Plcz1 T C 6: 139,992,964 N554S probably benign Het
Plin4 T C 17: 56,106,680 Q315R probably damaging Het
Plpp5 A G 8: 25,724,188 H244R probably benign Het
Ppp1r3a C T 6: 14,718,459 V819I probably benign Het
Rap1b T A 10: 117,822,804 R41S possibly damaging Het
Rc3h2 T A 2: 37,389,715 S501C probably benign Het
Sel1l2 G T 2: 140,230,858 A619D probably damaging Het
Ska3 T C 14: 57,820,511 D128G possibly damaging Het
Ssxb5 T A X: 8,808,848 N130K probably damaging Het
Tanc1 G T 2: 59,833,258 G1120C probably damaging Het
Tet1 T C 10: 62,813,019 Q267R possibly damaging Het
Tlr8 T A X: 167,244,156 H566L possibly damaging Het
Tmem132d T A 5: 127,783,979 Q1026L probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trp53bp2 C A 1: 182,448,691 P746T probably damaging Het
Uso1 A T 5: 92,187,773 I547F probably damaging Het
Zfp687 A C 3: 95,011,062 N466K probably damaging Het
Other mutations in Specc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Specc1l APN 10 75246221 missense probably benign 0.12
IGL01638:Specc1l APN 10 75246205 nonsense probably null
IGL01970:Specc1l APN 10 75245761 missense probably damaging 1.00
IGL02737:Specc1l APN 10 75246324 missense probably damaging 0.99
IGL02941:Specc1l APN 10 75241188 missense probably benign 0.10
R0305:Specc1l UTSW 10 75245829 missense probably damaging 1.00
R0374:Specc1l UTSW 10 75248459 missense probably damaging 0.99
R0402:Specc1l UTSW 10 75246426 missense probably damaging 1.00
R1456:Specc1l UTSW 10 75246284 missense probably damaging 0.98
R1508:Specc1l UTSW 10 75307238 missense probably benign 0.00
R1861:Specc1l UTSW 10 75309859 missense probably damaging 1.00
R1869:Specc1l UTSW 10 75261825 missense probably damaging 1.00
R1929:Specc1l UTSW 10 75245604 missense probably damaging 1.00
R1930:Specc1l UTSW 10 75309824 missense probably damaging 1.00
R2021:Specc1l UTSW 10 75267591 critical splice donor site probably null
R2209:Specc1l UTSW 10 75246576 missense probably damaging 1.00
R2271:Specc1l UTSW 10 75245604 missense probably damaging 1.00
R2937:Specc1l UTSW 10 75259131 missense probably damaging 0.98
R4415:Specc1l UTSW 10 75246328 missense possibly damaging 0.92
R4758:Specc1l UTSW 10 75246348 missense probably damaging 0.99
R5344:Specc1l UTSW 10 75246173 missense possibly damaging 0.84
R5383:Specc1l UTSW 10 75246705 missense possibly damaging 0.86
R5426:Specc1l UTSW 10 75267550 missense probably benign 0.21
R5774:Specc1l UTSW 10 75245400 missense probably damaging 1.00
R5788:Specc1l UTSW 10 75276921 missense probably damaging 1.00
R6101:Specc1l UTSW 10 75248632 missense probably damaging 1.00
R6105:Specc1l UTSW 10 75248632 missense probably damaging 1.00
R6136:Specc1l UTSW 10 75246660 missense probably benign 0.38
R6345:Specc1l UTSW 10 75248488 missense probably damaging 0.99
R6459:Specc1l UTSW 10 75246167 missense probably damaging 1.00
R6641:Specc1l UTSW 10 75246549 missense probably damaging 1.00
R6996:Specc1l UTSW 10 75246279 missense probably benign 0.23
R7100:Specc1l UTSW 10 75245495 missense probably benign 0.21
R7475:Specc1l UTSW 10 75246447 missense possibly damaging 0.59
R7545:Specc1l UTSW 10 75245087 missense probably benign 0.00
R7615:Specc1l UTSW 10 75263286 missense probably benign 0.02
R7635:Specc1l UTSW 10 75276804 missense probably damaging 1.00
R7640:Specc1l UTSW 10 75257869 missense probably damaging 1.00
R7682:Specc1l UTSW 10 75245802 missense probably damaging 0.99
R7711:Specc1l UTSW 10 75230808 missense probably benign 0.02
R7742:Specc1l UTSW 10 75246417 missense probably benign 0.01
R7847:Specc1l UTSW 10 75309836 missense probably damaging 0.99
R8015:Specc1l UTSW 10 75241068 missense probably benign 0.17
R8030:Specc1l UTSW 10 75248555 missense probably damaging 1.00
X0021:Specc1l UTSW 10 75274040 missense probably benign
Posted On2015-04-16