Incidental Mutation 'IGL02369:Gm10142'
ID290829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm10142
Ensembl Gene ENSMUSG00000094146
Gene Namepredicted gene 10142
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02369
Quality Score
Status
Chromosome10
Chromosomal Location77715807-77716169 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77716113 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 103 (S103P)
Ref Sequence ENSEMBL: ENSMUSP00000135962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]
Predicted Effect probably benign
Transcript: ENSMUST00000075421
SMART Domains Protein: ENSMUSP00000074876
Gene: ENSMUSG00000094012

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 2.6e-8 PFAM
Pfam:Keratin_B2_2 29 74 9.2e-10 PFAM
low complexity region 92 105 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092370
SMART Domains Protein: ENSMUSP00000090024
Gene: ENSMUSG00000069583

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 42 3.1e-6 PFAM
Pfam:Keratin_B2_2 20 68 3.1e-10 PFAM
Pfam:Keratin_B2_2 39 84 3.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179767
AA Change: S103P

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146
AA Change: S103P

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 53 1.7e-8 PFAM
Pfam:Keratin_B2_2 29 74 1.8e-9 PFAM
low complexity region 88 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218482
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 G T 6: 39,574,744 L148F probably damaging Het
Arhgef10 G A 8: 14,997,551 R1138H probably damaging Het
Arpp21 T C 9: 112,119,198 T668A probably benign Het
Atp6v0b T A 4: 117,885,653 I79F possibly damaging Het
Atp8b5 A T 4: 43,334,205 N324Y probably benign Het
Bach2 A G 4: 32,579,975 I610M possibly damaging Het
Casr G T 16: 36,494,689 D929E probably benign Het
Cbln2 T C 18: 86,713,354 S96P probably damaging Het
Cpxm1 T C 2: 130,396,424 K73E probably damaging Het
Erap1 A G 13: 74,666,526 Y457C probably benign Het
Etl4 T C 2: 20,530,189 Y152H probably damaging Het
Fbxo18 A T 2: 11,747,158 S910T possibly damaging Het
Gm12886 A G 4: 121,423,032 S16P unknown Het
Gpr146 T C 5: 139,392,688 Y82H probably benign Het
Herc1 C T 9: 66,492,011 Q4282* probably null Het
Htr2a A T 14: 74,706,282 E434V probably benign Het
Iqsec3 T C 6: 121,412,934 probably benign Het
Islr A C 9: 58,157,624 V200G probably damaging Het
Katnal1 T C 5: 148,878,927 D400G probably benign Het
Lonrf2 A G 1: 38,811,832 probably benign Het
Lrp2 A T 2: 69,464,636 L3446Q probably damaging Het
Med12l G A 3: 59,257,373 V1425I probably benign Het
Myh13 T C 11: 67,360,274 probably benign Het
Nutm2 T G 13: 50,469,908 S214A probably benign Het
Olfr1451 T C 19: 12,999,708 S241P probably damaging Het
Olfr433 T A 1: 174,041,973 W8R possibly damaging Het
Olfr820 C A 10: 130,017,556 A65E possibly damaging Het
Olfr93 A G 17: 37,151,774 F66S probably damaging Het
Pax5 A T 4: 44,691,919 M109K probably damaging Het
Pfkfb2 G A 1: 130,700,835 R345W probably damaging Het
Pkd1l3 A G 8: 109,616,345 D105G unknown Het
Prdm11 A G 2: 92,975,519 V362A probably benign Het
Prex2 T C 1: 11,101,169 probably null Het
Prl8a1 T C 13: 27,576,941 T103A possibly damaging Het
Rgl1 T C 1: 152,533,606 I493V probably damaging Het
Rimkla A G 4: 119,477,949 V79A possibly damaging Het
Ryr2 A T 13: 11,619,496 S3791R possibly damaging Het
Sh3rf2 C A 18: 42,156,157 S681* probably null Het
Stmnd1 T A 13: 46,285,553 I87K probably benign Het
Tspan8 C A 10: 115,839,877 F149L probably benign Het
Tspan8 A C 10: 115,839,878 K150Q probably benign Het
Ttn T C 2: 76,942,376 E2425G probably damaging Het
Other mutations in Gm10142
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0244:Gm10142 UTSW 10 77716014 unclassified probably null
R1293:Gm10142 UTSW 10 77716035 missense probably benign 0.03
R1918:Gm10142 UTSW 10 77715987 missense probably benign 0.32
R5047:Gm10142 UTSW 10 77716162 missense probably damaging 1.00
R5814:Gm10142 UTSW 10 77716123 missense probably damaging 0.99
Posted On2015-04-16