Incidental Mutation 'RF030:Gm5475'
ID604330
Institutional Source Beutler Lab
Gene Symbol Gm5475
Ensembl Gene ENSMUSG00000087444
Gene Namepredicted gene 5475
Synonyms
Accession Numbers

Ensembl: ENSMUST00000148928, ENSMUST00000132119; MGI:3646320

Is this an essential gene? Probably non essential (E-score: 0.172) question?
Stock #RF030 (G1)
Quality Score217.468
Status Not validated
Chromosome15
Chromosomal Location100422147-100428150 bp(+) (GRCm38)
Type of Mutationframe shift
DNA Base Change (assembly) GAAAGGTGGAAGGAAA to GAA at 100427156 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023774] [ENSMUST00000123461] [ENSMUST00000132119] [ENSMUST00000136168] [ENSMUST00000138843] [ENSMUST00000148928] [ENSMUST00000154331] [ENSMUST00000154676]
Predicted Effect probably benign
Transcript: ENSMUST00000023774
SMART Domains Protein: ENSMUSP00000023774
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 1.1e-122 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123461
SMART Domains Protein: ENSMUSP00000119056
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 170 2.9e-31 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132119
SMART Domains Protein: ENSMUSP00000114783
Gene: ENSMUSG00000087444

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 144 168 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136168
Predicted Effect probably benign
Transcript: ENSMUST00000138843
SMART Domains Protein: ENSMUSP00000116463
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Pfam:Nramp 90 474 4.7e-118 PFAM
transmembrane domain 505 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148928
SMART Domains Protein: ENSMUSP00000114462
Gene: ENSMUSG00000087444

DomainStartEndE-ValueType
low complexity region 23 33 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154331
SMART Domains Protein: ENSMUSP00000115357
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 41 56 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154676
SMART Domains Protein: ENSMUSP00000115019
Gene: ENSMUSG00000023030

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.5%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI837181 GGC GGCTGC 19: 5,425,226 probably benign Het
AI837181 GGC GGCCGC 19: 5,425,235 probably benign Het
Amfr GCC GCCGGCGCGAGCTCC 8: 94,012,292 probably benign Het
Ankhd1 GCGGCG GCGGCGCCGGCG 18: 36,560,913 probably benign Het
Ankhd1 GGCGGCAGC GGCGGCAGCGGCAGC 18: 36,560,927 probably benign Het
AY761185 GGGCACTGTGG GGG 8: 20,943,900 probably null Het
B430218F22Rik GG GGTCGGCG 13: 118,386,848 probably benign Het
Calhm1 CTGTGGCTGTGGCTGTGGCTGTGG CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG 19: 47,141,253 probably benign Het
Cox7a2l GGA GGATAGGGA 17: 83,502,722 probably benign Het
Cul9 CCTC CCTCCTC 17: 46,500,869 probably benign Het
Cyb5r4 ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 87,040,409 probably benign Het
Cyb5r4 TGCCCAGGGATGTGACAGACACAC TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC 9: 87,040,415 probably benign Het
Dmkn GTG GTGTTGGAAGTGGTGGAAGTGGTGGAAATG 7: 30,767,182 probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 73,640,611 probably benign Het
Eed C A 7: 89,955,032 A411S probably benign Het
Fer1l4 GGTC G 2: 156,045,529 probably benign Het
Frem3 GATC GATCATC 8: 80,615,238 probably benign Het
Gab3 CTTTT CT X: 74,999,977 probably benign Het
Gab3 TCT TCTGCT X: 75,000,005 probably benign Het
Gab3 TCT TCTCCT X: 75,000,008 probably benign Het
Gab3 TTC TTCGTC X: 75,000,025 probably benign Het
Gab3 TCT TCTGCT X: 75,000,026 probably benign Het
Gm35339 AGGAGGAGG AG 15: 76,363,165 probably null Het
Gm572 TGGGGGGGGGGGG TGGGGG 4: 148,671,393 probably null Het
Gucy1b2 CACACACACACACACACTTAC CAC 14: 62,408,641 probably benign Het
Gucy2d C CTGGGGCCTG 7: 98,459,034 probably benign Het
Hsdl2 CCACAGCTGCAG CCACAGCTGCAGCAGCAGACACAGCTGCAG 4: 59,610,647 probably benign Het
Idh2 GGTCCCAG GG 7: 80,098,329 probably benign Het
Il2 GTGG GTGGGGCTTGAACTGG 3: 37,125,827 probably benign Het
Il2 GG GGGCTTGAAGTGTG 3: 37,125,842 probably benign Het
Kmt2b CTCCTC CTCCTCTTCCTC 7: 30,586,377 probably benign Het
Lce1m C CGGCTGCTGCCAA 3: 93,018,141 probably benign Het
Lce1m GCTGCCAC GCTGCCACAGCAACTTCTGCCAC 3: 93,018,344 probably benign Het
Lrmp ATTG ATTGAGCACGTTG 6: 145,173,788 probably benign Het
Lrmp TG TGAGCACATGG 6: 145,173,790 probably benign Het
Mamld1 CAG CAGTAG X: 71,118,828 probably null Het
Map1a CAGCTCCA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA 2: 121,306,311 probably benign Het
Map1a CA CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA 2: 121,306,317 probably benign Het
Med12l GCA GCATCA 3: 59,275,989 probably benign Het
Morn4 GCAGTGAG GCAGTGAGTCAGTCAGTGAG 19: 42,076,111 probably null Het
Pdik1l C CCACCAA 4: 134,279,516 probably benign Het
Pkhd1l1 TTTTTTT TTTTTTTTTGTTTTTT 15: 44,558,502 probably benign Het
Rfx4 TCTCTCTCTCTCTCT TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT 10: 84,858,480 probably benign Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,785,301 probably benign Het
Setd1a GGTGGTAGT GGTGGTAGTTGTGGTAGT 7: 127,785,311 probably benign Het
Six5 CGGA C 7: 19,094,800 probably benign Het
Tcof1 CCAGA CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA 18: 60,833,568 probably benign Het
Tcof1 ATCCCCTTGGC ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC 18: 60,833,574 probably benign Het
Tcof1 CTGCTGCTGC CTGCTGCTGCTGC 18: 60,835,723 probably benign Het
Tfeb AGC AGCCGC 17: 47,786,111 probably benign Het
Tfeb GCA GCACCA 17: 47,786,112 probably benign Het
Tfeb CAG CAGAAG 17: 47,786,113 probably benign Het
Tgoln1 TGGGCTTG TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG 6: 72,616,036 probably benign Het
Tgoln1 GCTTGCCAGAAT GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT 6: 72,616,063 probably benign Het
Thegl AGCGATCCTCCCCAGTCCCGCAAGGCC AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC 5: 77,016,401 probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 probably benign Het
Trappc9 TGCTGCT TGCTGCTGCTGCTGCGGCTGCT 15: 72,801,325 probably benign Het
Tsen2 GGA GGACGA 6: 115,560,067 probably benign Het
Zfp384 GCCCAGGCCCAG GCCCAGGCCCAGTCCCAGGCCCAG 6: 125,036,483 probably benign Het
Other mutations in Gm5475
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Gm5475 APN 15 100424215 unclassified probably benign
R0037:Gm5475 UTSW 15 100424202 nonsense probably null
R2219:Gm5475 UTSW 15 100424213 unclassified probably benign
R4258:Gm5475 UTSW 15 100424236 unclassified probably benign
R6934:Gm5475 UTSW 15 100427126 unclassified probably benign
R7269:Gm5475 UTSW 15 100427009 missense unknown
RF020:Gm5475 UTSW 15 100427149 frame shift probably null
RF025:Gm5475 UTSW 15 100427152 frame shift probably null
RF031:Gm5475 UTSW 15 100427148 frame shift probably null
RF033:Gm5475 UTSW 15 100427144 frame shift probably null
RF047:Gm5475 UTSW 15 100427156 frame shift probably null
X0028:Gm5475 UTSW 15 100424239 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCATCTTTTCCTGGAAAATCGG -3'
(R):5'- AGTGAGAAATGCTTGCAATTCC -3'

Sequencing Primer
(F):5'- ATCGGAAAATCGTTCTTCAGGG -3'
(R):5'- CAACCAGAGGGATTTTTGCC -3'
Posted On2019-12-04