Incidental Mutation 'R8279:Gm10142'
ID 638122
Institutional Source Beutler Lab
Gene Symbol Gm10142
Ensembl Gene ENSMUSG00000094146
Gene Name predicted gene 10142
Synonyms
MMRRC Submission 067702-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R8279 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 77551641-77552003 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 77552001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 121 (*121R)
Ref Sequence ENSEMBL: ENSMUSP00000135962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075421] [ENSMUST00000092366] [ENSMUST00000092370] [ENSMUST00000179767]
AlphaFold J3KMP7
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 null
Transcript: ENSMUST00000179767
AA Change: *121R
SMART Domains Protein: ENSMUSP00000135962
Gene: ENSMUSG00000094146
AA Change: *121R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,069,549 (GRCm39) N1282S probably benign Het
Als2cl A G 9: 110,723,653 (GRCm39) H683R probably damaging Het
Ank2 C T 3: 126,726,820 (GRCm39) D825N probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
C3 A G 17: 57,522,809 (GRCm39) V1025A probably benign Het
Cc2d2a T C 5: 43,893,487 (GRCm39) S1489P probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cdk14 G A 5: 5,316,125 (GRCm39) probably benign Het
Clpb T C 7: 101,355,695 (GRCm39) V183A possibly damaging Het
Cpa3 C T 3: 20,277,478 (GRCm39) M232I possibly damaging Het
Cyp2j7 A G 4: 96,116,796 (GRCm39) probably null Het
Dnah2 A G 11: 69,366,399 (GRCm39) I1907T probably damaging Het
Efemp1 T C 11: 28,871,795 (GRCm39) F437L possibly damaging Het
Fat1 T A 8: 45,483,384 (GRCm39) probably null Het
Fry A T 5: 150,419,726 (GRCm39) T599S Het
Kcng3 A C 17: 83,895,254 (GRCm39) F404C probably damaging Het
Mefv T G 16: 3,533,086 (GRCm39) H395P unknown Het
Mrc1 T A 2: 14,271,168 (GRCm39) D357E possibly damaging Het
Muc15 A G 2: 110,562,052 (GRCm39) T163A probably benign Het
Ncdn T C 4: 126,644,199 (GRCm39) T208A probably benign Het
Or2q1 A T 6: 42,794,557 (GRCm39) I51F probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pdpk1 A G 17: 24,307,147 (GRCm39) S395P probably benign Het
Slc27a6 T C 18: 58,705,251 (GRCm39) V211A probably benign Het
Slco3a1 T C 7: 73,934,144 (GRCm39) D676G possibly damaging Het
Slfn4 T G 11: 83,077,482 (GRCm39) M90R possibly damaging Het
Ssbp4 T C 8: 71,054,955 (GRCm39) D68G probably damaging Het
Sval3 A G 6: 41,949,371 (GRCm39) T70A possibly damaging Het
Taf1c C T 8: 120,325,750 (GRCm39) R704Q probably benign Het
Tex15 T A 8: 34,061,765 (GRCm39) D398E probably damaging Het
Tmprss3 A T 17: 31,416,709 (GRCm39) V9E probably benign Het
Vps35l T A 7: 118,345,722 (GRCm39) M109K probably benign Het
Other mutations in Gm10142
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02369:Gm10142 APN 10 77,551,947 (GRCm39) missense probably benign 0.07
R0244:Gm10142 UTSW 10 77,551,848 (GRCm39) splice site probably null
R1293:Gm10142 UTSW 10 77,551,869 (GRCm39) missense probably benign 0.03
R1918:Gm10142 UTSW 10 77,551,821 (GRCm39) missense probably benign 0.32
R5047:Gm10142 UTSW 10 77,551,996 (GRCm39) missense probably damaging 1.00
R5814:Gm10142 UTSW 10 77,551,957 (GRCm39) missense probably damaging 0.99
R8248:Gm10142 UTSW 10 77,551,950 (GRCm39) missense probably damaging 0.96
R9681:Gm10142 UTSW 10 77,551,880 (GRCm39) nonsense probably null
R9685:Gm10142 UTSW 10 77,551,762 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCTGTTAGATACCAAGTGGCCTG -3'
(R):5'- GTAAAGAGACATTCCCAGAGCC -3'

Sequencing Primer
(F):5'- AGATACCAAGTGGCCTGCTGTG -3'
(R):5'- AGAGCCACGGTACCCTTTCAG -3'
Posted On 2020-07-28