Incidental Mutation 'IGL00225:Sla'
ID2133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sla
Ensembl Gene ENSMUSG00000022372
Gene Namesrc-like adaptor
SynonymsSlap, Slap-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00225
Quality Score
Status
Chromosome15
Chromosomal Location66780819-66831829 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66782630 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Ref Sequence ENSEMBL: ENSMUSP00000131865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065916] [ENSMUST00000100572] [ENSMUST00000163495] [ENSMUST00000164163] [ENSMUST00000168522] [ENSMUST00000168589] [ENSMUST00000171045]
Predicted Effect probably benign
Transcript: ENSMUST00000065916
SMART Domains Protein: ENSMUSP00000070239
Gene: ENSMUSG00000053469

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TY 50 97 5.9e-16 SMART
TY 118 165 5.59e-17 SMART
Pfam:Thyroglobulin_1 174 252 4e-9 PFAM
TY 317 363 4.36e-19 SMART
low complexity region 495 504 N/A INTRINSIC
TY 617 662 3.58e-15 SMART
TY 684 730 1.47e-16 SMART
TY 880 926 1.51e-4 SMART
TY 1029 1078 1.21e-12 SMART
TY 1106 1150 7.56e-5 SMART
TY 1167 1215 7.26e-16 SMART
low complexity region 1244 1255 N/A INTRINSIC
Pfam:GCC2_GCC3 1464 1509 2.7e-16 PFAM
TY 1519 1568 9.81e-13 SMART
Pfam:COesterase 2181 2717 8.4e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100572
AA Change: D253G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: D253G

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
SH3 25 81 2.5e-6 SMART
SH2 82 166 4.1e-31 SMART
low complexity region 247 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163495
SMART Domains Protein: ENSMUSP00000129868
Gene: ENSMUSG00000053469

DomainStartEndE-ValueType
TY 14 63 1.21e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164163
AA Change: D253G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: D253G

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
SH3 25 81 2.5e-6 SMART
SH2 82 166 4.1e-31 SMART
low complexity region 247 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164939
Predicted Effect possibly damaging
Transcript: ENSMUST00000168522
AA Change: D269G

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: D269G

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
SH3 41 97 4.1e-4 SMART
SH2 98 182 6.67e-29 SMART
low complexity region 263 276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168589
AA Change: D253G

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: D253G

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
SH3 25 81 2.5e-6 SMART
SH2 82 166 4.1e-31 SMART
low complexity region 247 260 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171045
SMART Domains Protein: ENSMUSP00000126454
Gene: ENSMUSG00000053469

DomainStartEndE-ValueType
internal_repeat_1 93 331 1.53e-6 PROSPERO
Pfam:COesterase 562 1098 2.1e-137 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172153
SMART Domains Protein: ENSMUSP00000128410
Gene: ENSMUSG00000053469

DomainStartEndE-ValueType
Pfam:COesterase 313 849 6e-140 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous inactivation in this locus affects T cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Flii T C 11: 60,723,415 N93D probably benign Het
Gm8356 T C 14: 6,537,141 K24E probably damaging Het
Hars G A 18: 36,768,172 T409M probably damaging Het
Ivns1abp A G 1: 151,351,112 probably null Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Kdm4c T G 4: 74,345,567 V696G probably benign Het
Klrb1f T A 6: 129,053,175 probably benign Het
Lrp4 G A 2: 91,495,026 V1399I probably benign Het
Mki67 A G 7: 135,690,120 V3168A probably benign Het
Nf1 T A 11: 79,395,905 I177K probably damaging Het
Nnt A T 13: 119,369,997 N371K probably damaging Het
Olfr472 C T 7: 107,903,104 P129L probably damaging Het
Olfr60 A G 7: 140,345,210 Y260H probably damaging Het
Oraov1 G A 7: 144,917,668 G86D possibly damaging Het
Prkdc G T 16: 15,809,644 V3389L possibly damaging Het
Prr16 T A 18: 51,303,120 Y224N possibly damaging Het
Ptgs1 G A 2: 36,237,219 C39Y probably damaging Het
Stk38l T A 6: 146,758,473 M1K probably null Het
Trim24 T A 6: 37,903,648 N160K possibly damaging Het
Zfp451 A G 1: 33,786,540 probably benign Het
Other mutations in Sla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03180:Sla APN 15 66789720 missense probably benign 0.01
crimson UTSW 15 66793705 missense probably damaging 1.00
Hearst UTSW 15 66787090 missense probably damaging 1.00
R0497:Sla UTSW 15 66792249 missense probably benign 0.00
R2019:Sla UTSW 15 66782555 missense probably damaging 1.00
R2135:Sla UTSW 15 66782714 missense probably benign 0.30
R2383:Sla UTSW 15 66782676 missense probably damaging 1.00
R3442:Sla UTSW 15 66783660 missense probably benign 0.00
R4495:Sla UTSW 15 66801512 missense probably benign
R5851:Sla UTSW 15 66783723 missense probably damaging 0.98
R5935:Sla UTSW 15 66793705 missense probably damaging 1.00
R6161:Sla UTSW 15 66782598 missense probably null 0.03
R6837:Sla UTSW 15 66787090 missense probably damaging 1.00
R7196:Sla UTSW 15 66831571 missense probably benign 0.00
RF022:Sla UTSW 15 66782744 missense probably benign
Posted On2011-12-09