Incidental Mutation 'R7044:Gm3543'
ID547225
Institutional Source Beutler Lab
Gene Symbol Gm3543
Ensembl Gene ENSMUSG00000093945
Gene Namepredicted gene 3543
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Not available question?
Stock #R7044 (G1)
Quality Score225.009
Status Not validated
Chromosome14
Chromosomal Location41977873-41983325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 41980066 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 154 (I154F)
Ref Sequence ENSEMBL: ENSMUSP00000107501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064162] [ENSMUST00000111870] [ENSMUST00000168972] [ENSMUST00000179947]
Predicted Effect probably benign
Transcript: ENSMUST00000064162
SMART Domains Protein: ENSMUSP00000064211
Gene: ENSMUSG00000052334

DomainStartEndE-ValueType
Pfam:Takusan 10 93 3.7e-35 PFAM
coiled coil region 108 141 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111870
AA Change: I154F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107501
Gene: ENSMUSG00000093945
AA Change: I154F

DomainStartEndE-ValueType
Pfam:Takusan 8 89 4.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168972
SMART Domains Protein: ENSMUSP00000127922
Gene: ENSMUSG00000052334

DomainStartEndE-ValueType
Pfam:Takusan 10 93 8.6e-36 PFAM
coiled coil region 108 141 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179947
SMART Domains Protein: ENSMUSP00000136563
Gene: ENSMUSG00000093945

DomainStartEndE-ValueType
Pfam:Takusan 1 33 6.7e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik C T 1: 37,612,280 D1169N possibly damaging Het
Ankrd6 T A 4: 32,815,260 Q448L possibly damaging Het
Appl1 A G 14: 26,928,677 S513P possibly damaging Het
Cdhr2 A T 13: 54,733,321 K1066* probably null Het
Ckap5 T C 2: 91,577,601 I824T probably benign Het
Ctbp2 T C 7: 133,015,102 R35G possibly damaging Het
Dcdc2c T C 12: 28,470,494 probably benign Het
Eya1 T A 1: 14,231,410 probably null Het
Fam105a A G 15: 27,657,235 probably benign Het
Fam207a T C 10: 77,514,392 D35G possibly damaging Het
Fat4 G C 3: 39,010,810 A4972P probably benign Het
Fat4 C T 3: 39,010,811 A4972V probably benign Het
Fbxl8 T A 8: 105,267,015 M1K probably null Het
Glyat T C 19: 12,650,265 S75P probably benign Het
Gm4565 T A 7: 22,583,370 M8L probably benign Het
Gpr179 T C 11: 97,349,790 Q269R probably benign Het
Hfe2 C A 3: 96,527,474 H176Q possibly damaging Het
Ikzf2 T C 1: 69,538,901 H483R possibly damaging Het
Il25 G A 14: 54,933,158 A63T probably benign Het
Krt27 T A 11: 99,346,814 N366I probably benign Het
Mfge8 A G 7: 79,142,520 V219A probably benign Het
Nrbp1 T C 5: 31,249,946 V373A probably damaging Het
Olfr1186 A G 2: 88,526,486 N301S probably benign Het
Pcdh20 A G 14: 88,469,171 I231T probably damaging Het
Pfkp A G 13: 6,581,567 W151R probably damaging Het
Pikfyve T C 1: 65,246,854 I1084T probably benign Het
Poteg T C 8: 27,449,895 C27R probably damaging Het
Ptprz1 G A 6: 23,044,346 V1266M probably damaging Het
Rpa1 T C 11: 75,312,802 D358G probably damaging Het
Snapc4 A G 2: 26,369,953 S495P probably damaging Het
Surf6 A G 2: 26,899,356 I123T probably damaging Het
Sybu A T 15: 44,677,695 S324T possibly damaging Het
Trim3 A T 7: 105,618,214 S319R probably damaging Het
Trmt11 A G 10: 30,590,934 F72L probably benign Het
Tsks C T 7: 44,943,792 R61W probably damaging Het
Ube2k T C 5: 65,581,429 V36A possibly damaging Het
Ube3a T C 7: 59,288,413 V688A probably damaging Het
Vegfc A G 8: 54,157,045 K79E possibly damaging Het
Vmn1r77 G A 7: 12,041,834 R179Q probably benign Het
Vmn2r97 T A 17: 18,914,367 F16I probably benign Het
Zfp451 A T 1: 33,802,167 probably benign Het
Zfp600 C T 4: 146,195,322 Q187* probably null Het
Other mutations in Gm3543
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02553:Gm3543 APN 14 41980091 missense probably benign 0.08
IGL03067:Gm3543 APN 14 41980873 splice site probably benign
IGL03162:Gm3543 APN 14 41980065 missense possibly damaging 0.84
R7975:Gm3543 UTSW 14 41980165 missense probably benign 0.00
Z1176:Gm3543 UTSW 14 41981007 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAACTCCAGAGAAAGTCTTGG -3'
(R):5'- AATCTGGATACTTATCTGGGGC -3'

Sequencing Primer
(F):5'- CAACTCCAGAGAAAGTCTTGGTAATG -3'
(R):5'- ATGGATGCTGCCTGGAGTCAC -3'
Posted On2019-05-13