Incidental Mutation 'R1375:Gm17541'
ID 157484
Institutional Source Beutler Lab
Gene Symbol Gm17541
Ensembl Gene ENSMUSG00000091732
Gene Name predicted gene, 17541
Synonyms
MMRRC Submission 039439-MU
Accession Numbers
Essential gene? Not available question?
Stock # R1375 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4739405-4739917 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 4739825 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: 98.8%
  • 3x: 97.7%
  • 10x: 94.8%
  • 20x: 89.3%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A G 11: 94,243,042 (GRCm39) V1268A possibly damaging Het
Ccng1 G A 11: 40,642,941 (GRCm39) P169S probably benign Het
Cep85l A T 10: 53,225,354 (GRCm39) D78E probably damaging Het
Csmd1 C A 8: 16,513,095 (GRCm39) probably null Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Defb15 T C 8: 22,420,071 (GRCm39) N19D possibly damaging Het
Dnah8 G A 17: 30,956,269 (GRCm39) G2083D probably damaging Het
Ggn T C 7: 28,871,366 (GRCm39) S249P probably damaging Het
Gnptab T A 10: 88,268,435 (GRCm39) L514Q probably damaging Het
Heg1 C A 16: 33,547,246 (GRCm39) H678N possibly damaging Het
Heg1 T C 16: 33,547,679 (GRCm39) I846T possibly damaging Het
Hydin G A 8: 111,232,854 (GRCm39) probably null Het
Il17b T C 18: 61,823,325 (GRCm39) V53A probably benign Het
Inpp5f T A 7: 128,265,753 (GRCm39) L166* probably null Het
Mdfic2 C T 6: 98,215,260 (GRCm39) C121Y possibly damaging Het
Myh9 A T 15: 77,653,568 (GRCm39) probably null Het
Nsrp1 A G 11: 76,941,543 (GRCm39) probably benign Het
Nup205 T C 6: 35,177,006 (GRCm39) probably benign Het
Olr1 T C 6: 129,484,039 (GRCm39) N11S possibly damaging Het
Or5w1b T A 2: 87,476,081 (GRCm39) N129Y probably damaging Het
Or6b6 A G 7: 106,571,305 (GRCm39) L82P probably damaging Het
Or6c211 A T 10: 129,506,241 (GRCm39) L12Q probably null Het
Or8b46 T A 9: 38,450,830 (GRCm39) V213D possibly damaging Het
Pipox C A 11: 77,772,036 (GRCm39) E363* probably null Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rpp30 T C 19: 36,078,673 (GRCm39) probably null Het
Septin1 T C 7: 126,817,333 (GRCm39) D25G probably damaging Het
Stk17b T C 1: 53,805,106 (GRCm39) N152D possibly damaging Het
Tasor2 A G 13: 3,626,029 (GRCm39) V1307A probably benign Het
Thsd7b A T 1: 130,087,423 (GRCm39) N1180I 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
R4283:Gm17541 UTSW 12 4,739,656 (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'- TTGGAGTCATGGAACTGCTTGACAG -3'
(R):5'- TCCCAAAGTATCTTCATGGGATGTTGC -3'

Sequencing Primer
(F):5'- TAGCACTGTGAGACTGCAC -3'
(R):5'- TTGCAGCAAGCACCTGAATAG -3'
Posted On 2014-02-18