Incidental Mutation 'R4283:Gm17541'
ID 321962
Institutional Source Beutler Lab
Gene Symbol Gm17541
Ensembl Gene ENSMUSG00000091732
Gene Name predicted gene, 17541
Synonyms
MMRRC Submission 041651-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4283 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4739405-4739917 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 4739656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062580] [ENSMUST00000219007] [ENSMUST00000220311]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062580
SMART Domains Protein: ENSMUSP00000052758
Gene: ENSMUSG00000020640

DomainStartEndE-ValueType
EH 15 109 8.44e-41 SMART
EFh 58 86 7.18e-3 SMART
low complexity region 156 169 N/A INTRINSIC
low complexity region 215 231 N/A INTRINSIC
EH 238 333 4.06e-43 SMART
EFh 282 310 6.16e-2 SMART
coiled coil region 366 462 N/A INTRINSIC
coiled coil region 516 556 N/A INTRINSIC
coiled coil region 580 715 N/A INTRINSIC
SH3 721 778 2.65e-21 SMART
low complexity region 791 811 N/A INTRINSIC
SH3 855 909 8.83e-18 SMART
SH3 945 999 9.1e-20 SMART
SH3 1017 1077 1.55e-13 SMART
SH3 1091 1146 7.22e-23 SMART
RhoGEF 1174 1355 1.93e-56 SMART
PH 1396 1507 1.16e-9 SMART
C2 1531 1628 3.96e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000080062
SMART Domains Protein: ENSMUSP00000129198
Gene: ENSMUSG00000091732

DomainStartEndE-ValueType
Pfam:Ribosomal_L18ae 4 127 2.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219007
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219832
Predicted Effect probably benign
Transcript: ENSMUST00000220311
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,087 (GRCm39) T229A probably benign Het
Adgrg5 T G 8: 95,664,326 (GRCm39) V312G probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Camk2b A C 11: 5,937,099 (GRCm39) S327A probably benign Het
Card9 A G 2: 26,247,309 (GRCm39) I280T possibly damaging Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cga T C 4: 34,905,264 (GRCm39) probably null Het
Copg1 C T 6: 87,885,527 (GRCm39) T723M probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Crtc2 A G 3: 90,166,543 (GRCm39) probably benign Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Ghr C A 15: 3,362,930 (GRCm39) V181L possibly damaging Het
Gm10750 A G 2: 148,857,916 (GRCm39) F112L unknown Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hdac10 A G 15: 89,009,826 (GRCm39) L402P possibly damaging Het
Hsd17b12 G C 2: 93,863,931 (GRCm39) R304G unknown Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Ncaph A G 2: 126,963,005 (GRCm39) probably benign Het
Ninl T C 2: 150,795,336 (GRCm39) probably benign Het
Pcgf1 T A 6: 83,056,714 (GRCm39) L90Q probably damaging Het
Pcsk4 C A 10: 80,165,287 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,699,734 (GRCm39) E60G probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Slc17a6 A G 7: 51,294,824 (GRCm39) Y177C probably damaging Het
Tas2r104 C T 6: 131,662,374 (GRCm39) A112T probably damaging Het
Tas2r123 G A 6: 132,825,008 (GRCm39) V302I possibly damaging Het
Tas2r143 T A 6: 42,378,007 (GRCm39) probably null Het
Tfeb A G 17: 48,100,699 (GRCm39) E305G probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Upf2 A G 2: 5,978,369 (GRCm39) N411S unknown Het
Vmn2r52 C T 7: 9,904,565 (GRCm39) G425R possibly damaging Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Gm17541
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Gm17541 APN 12 4,739,868 (GRCm39) intron probably benign
IGL02006:Gm17541 APN 12 4,739,619 (GRCm39) intron probably benign
IGL02525:Gm17541 APN 12 4,739,907 (GRCm39) intron probably benign
R0266:Gm17541 UTSW 12 4,739,487 (GRCm39) intron probably benign
R0501:Gm17541 UTSW 12 4,739,730 (GRCm39) intron probably benign
R1375:Gm17541 UTSW 12 4,739,825 (GRCm39) intron probably benign
R5256:Gm17541 UTSW 12 4,739,672 (GRCm39) intron probably benign
R5512:Gm17541 UTSW 12 4,739,452 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- TCTTGGAGTCATGGAACTGC -3'
(R):5'- TGCTTGCCAACCCCAAAATG -3'

Sequencing Primer
(F):5'- GGAGTCATGGAACTGCTTGAC -3'
(R):5'- GAATCTTTGCACCCAACCATGTGG -3'
Posted On 2015-06-20