Incidental Mutation 'R4256:Gm5148'
ID 321810
Institutional Source Beutler Lab
Gene Symbol Gm5148
Ensembl Gene ENSMUSG00000058174
Gene Name predicted gene 5148
Synonyms
MMRRC Submission 041069-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.287) question?
Stock # R4256 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 37714190-37724490 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37714609 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 154 (H154L)
Ref Sequence ENSEMBL: ENSMUSP00000103740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079755] [ENSMUST00000099128] [ENSMUST00000108105]
AlphaFold Q8BGG2
Predicted Effect unknown
Transcript: ENSMUST00000079755
AA Change: H154L
SMART Domains Protein: ENSMUSP00000078691
Gene: ENSMUSG00000058174
AA Change: H154L

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000099128
AA Change: H154L
SMART Domains Protein: ENSMUSP00000096731
Gene: ENSMUSG00000058174
AA Change: H154L

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000108105
AA Change: H154L
SMART Domains Protein: ENSMUSP00000103740
Gene: ENSMUSG00000058174
AA Change: H154L

DomainStartEndE-ValueType
low complexity region 80 93 N/A INTRINSIC
low complexity region 105 116 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197710
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (41/44)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 63,973,209 R190H probably benign Het
5730559C18Rik G T 1: 136,214,350 N670K probably benign Het
Arsi T C 18: 60,917,316 W424R probably damaging Het
Atad2 A G 15: 58,116,856 S411P probably damaging Het
Cdhr2 G A 13: 54,714,005 V72I probably damaging Het
Celf4 T C 18: 25,491,201 I414V probably damaging Het
Cfap43 G A 19: 47,782,405 T689I probably benign Het
Cpne9 C T 6: 113,283,023 probably benign Het
Cyp3a11 A T 5: 145,869,195 S121T probably benign Het
Dip2c C A 13: 9,609,056 Q864K probably damaging Het
Fbxo3 A G 2: 104,051,165 T281A probably damaging Het
Gm906 A C 13: 50,250,105 S54A probably benign Het
Gsdma2 T A 11: 98,651,932 probably null Het
Hfm1 T C 5: 106,904,797 I273M possibly damaging Het
Hspa4l A G 3: 40,746,003 E14G probably benign Het
Lgals12 T G 19: 7,606,716 E5D possibly damaging Het
Lsg1 T G 16: 30,573,243 I237L probably benign Het
Mettl14 T C 3: 123,383,605 E49G probably damaging Het
Nbeal1 A G 1: 60,330,948 I2675V probably benign Het
Olfr1272 A T 2: 90,282,062 V171E probably damaging Het
Olfr1391 A T 11: 49,327,477 Q22L probably benign Het
Olfr178 T G 16: 58,889,780 S147R probably benign Het
Padi1 A T 4: 140,814,778 L611Q probably damaging Het
Pcdhac2 A G 18: 37,144,711 D248G probably damaging Het
Plekhm1 C A 11: 103,370,934 R940L probably damaging Het
Rasa3 A G 8: 13,614,532 probably null Het
Rspo2 C A 15: 43,075,911 R161L probably benign Het
Sacs A G 14: 61,206,337 Y1944C probably damaging Het
Slc7a10 G T 7: 35,198,715 M297I probably damaging Het
Ssh2 A G 11: 77,408,183 T112A possibly damaging Het
Ttc7 A T 17: 87,321,401 probably null Het
Vmn1r64 T A 7: 5,883,896 H216L probably benign Het
Vmn2r112 A G 17: 22,618,412 K618R probably damaging Het
Vmp1 T A 11: 86,661,188 I117L probably benign Het
Vsnl1 A T 12: 11,332,055 Y108* probably null Het
Wdr31 A G 4: 62,457,438 probably null Het
Zfp329 A G 7: 12,807,913 V284A probably benign Het
Zfp551 G A 7: 12,416,391 H364Y possibly damaging Het
Other mutations in Gm5148
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0138:Gm5148 UTSW 3 37714777 missense probably benign 0.10
R5445:Gm5148 UTSW 3 37714846 missense probably damaging 0.96
R9199:Gm5148 UTSW 3 37714840 missense probably benign 0.00
Z1177:Gm5148 UTSW 3 37715005 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GCACATTTAGCCTTAGAACTAATGC -3'
(R):5'- CAAACGGATTGGCCTTCAGG -3'

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