Incidental Mutation 'PIT4514001:Gm13124'
ID556261
Institutional Source Beutler Lab
Gene Symbol Gm13124
Ensembl Gene ENSMUSG00000078506
Gene Namepredicted gene 13124
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #PIT4514001 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location144555000-144565134 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 144555511 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
Ref Sequence ENSEMBL: ENSMUSP00000101374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105748]
Predicted Effect probably damaging
Transcript: ENSMUST00000105748
AA Change: Y237C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101374
Gene: ENSMUSG00000078506
AA Change: Y237C

DomainStartEndE-ValueType
transmembrane domain 2 24 N/A INTRINSIC
Pfam:Abhydrolase_5 113 292 1.7e-8 PFAM
Pfam:Abhydrolase_3 114 284 2.5e-33 PFAM
Pfam:Abhydrolase_3 306 380 2.6e-11 PFAM
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik T A 5: 98,801,871 H221Q probably benign Het
1700023F06Rik T C 11: 103,201,134 D27G probably benign Het
4930486L24Rik A G 13: 60,853,514 probably null Het
Abcc10 T A 17: 46,305,648 I1247F probably benign Het
Acap3 G A 4: 155,903,378 A524T probably benign Het
Adcy10 T A 1: 165,556,791 N1040K probably benign Het
Adrb2 T C 18: 62,179,727 D9G probably benign Het
Aldh1a7 T C 19: 20,702,240 T391A probably benign Het
Bcam A G 7: 19,764,066 V344A probably benign Het
Birc7 T A 2: 180,931,306 I172N possibly damaging Het
Cfap126 G A 1: 171,125,312 D45N probably damaging Het
Cit G A 5: 115,997,854 probably null Het
Col26a1 A G 5: 136,751,725 V295A probably benign Het
Epha7 C T 4: 28,961,355 Q867* probably null Het
Fn1 A G 1: 71,628,456 S793P probably benign Het
Foxb1 T A 9: 69,760,221 Y9F probably damaging Het
Gpc1 T A 1: 92,857,557 M406K probably benign Het
Gsg1 T C 6: 135,237,576 T312A probably benign Het
Hmcn1 T A 1: 150,669,487 I2790F possibly damaging Het
Kcnma1 C T 14: 23,309,035 probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,427,253 probably null Het
Mcph1 A G 8: 18,631,890 K348E probably damaging Het
Olfr122 T A 17: 37,771,867 N71K probably damaging Het
Olfr985 T C 9: 40,127,299 I221V probably damaging Het
Pik3cg T A 12: 32,204,903 R362W probably damaging Het
Pkp3 T C 7: 141,089,710 L765P probably damaging Het
Plxna2 A T 1: 194,794,937 I1252F probably benign Het
Prpf8 T C 11: 75,496,355 F1154S possibly damaging Het
Scn7a A G 2: 66,684,179 F1084L probably damaging Het
Shmt1 G A 11: 60,804,347 S47L probably damaging Het
Snap91 T C 9: 86,879,433 K40R possibly damaging Het
Spag17 A T 3: 100,013,211 T421S possibly damaging Het
Speer4f1 T A 5: 17,478,756 N139K possibly damaging Het
Syne2 T G 12: 76,105,015 N1883K probably damaging Het
Tgfb1i1 C T 7: 128,249,181 R191C probably damaging Het
Tmem39b A C 4: 129,684,497 N310K possibly damaging Het
Trim3 T C 7: 105,618,210 T321A probably benign Het
Vmn2r124 T C 17: 18,073,712 I687T probably benign Het
Zbtb8a T C 4: 129,357,730 D316G probably benign Het
Zfp639 A G 3: 32,520,260 I345V possibly damaging Het
Zfp764 T C 7: 127,404,741 H406R probably benign Het
Other mutations in Gm13124
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Gm13124 APN 4 144555273 missense probably benign 0.13
IGL02876:Gm13124 APN 4 144555773 missense probably damaging 1.00
R0089:Gm13124 UTSW 4 144555733 missense probably benign
R0325:Gm13124 UTSW 4 144555511 missense probably damaging 0.98
R0920:Gm13124 UTSW 4 144561126 splice site probably benign
R1301:Gm13124 UTSW 4 144565065 missense probably benign 0.00
R1711:Gm13124 UTSW 4 144555406 missense probably damaging 0.98
R4328:Gm13124 UTSW 4 144555594 missense possibly damaging 0.69
R4382:Gm13124 UTSW 4 144555026 missense possibly damaging 0.71
R4655:Gm13124 UTSW 4 144555075 missense probably benign 0.24
R5194:Gm13124 UTSW 4 144555082 missense probably benign 0.00
R6301:Gm13124 UTSW 4 144558654 missense probably damaging 0.99
R6508:Gm13124 UTSW 4 144565020 nonsense probably null
R7206:Gm13124 UTSW 4 144558641 missense probably damaging 1.00
R7429:Gm13124 UTSW 4 144565056 missense probably benign
R7520:Gm13124 UTSW 4 144555289 missense probably damaging 1.00
R7525:Gm13124 UTSW 4 144565010 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCGGCCTTGGCTCTTGAATC -3'
(R):5'- CTTGAATGCCACAGTCCACTTC -3'

Sequencing Primer
(F):5'- CCTTGGCTCTTGAATCTTTGG -3'
(R):5'- TGCCACAGTCCACTTCTTGAAAG -3'
Posted On2019-06-07