Incidental Mutation 'R5445:Gm13023'
ID427391
Institutional Source Beutler Lab
Gene Symbol Gm13023
Ensembl Gene ENSMUSG00000066031
Gene Namepredicted gene 13023
SynonymsMGC:91194
MMRRC Submission 043010-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #R5445 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location143789352-143795575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143795137 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 441 (V441E)
Ref Sequence ENSEMBL: ENSMUSP00000082232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085144] [ENSMUST00000105770] [ENSMUST00000149739]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085144
AA Change: V441E

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: V441E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 3e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139978
Predicted Effect probably benign
Transcript: ENSMUST00000149739
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430105I19Rik T C 2: 118,759,586 D259G probably damaging Het
Abcg5 A T 17: 84,671,129 D300E probably damaging Het
Apbb1ip T C 2: 22,835,948 V244A possibly damaging Het
Arhgap32 T C 9: 32,248,382 S232P probably benign Het
Atf7ip G A 6: 136,587,257 V833M probably damaging Het
Casp7 A G 19: 56,433,338 probably null Het
Celsr2 T A 3: 108,392,658 E2911D probably benign Het
Cep350 T C 1: 155,894,723 D1807G probably benign Het
Chrd A G 16: 20,738,910 T753A possibly damaging Het
Clasp2 A G 9: 113,903,946 D971G probably damaging Het
Cnnm2 A G 19: 46,877,288 T772A possibly damaging Het
Cntn1 A T 15: 92,295,077 N687Y probably damaging Het
Col6a3 G A 1: 90,782,039 R1812* probably null Het
Dsc2 T C 18: 20,035,303 I700V possibly damaging Het
Fam71d G A 12: 78,715,116 E185K probably damaging Het
Flt3 G A 5: 147,355,095 Q540* probably null Het
Fmo4 T A 1: 162,805,273 I170F probably benign Het
Fra10ac1 T A 19: 38,219,462 D72V possibly damaging Het
Gemin6 T G 17: 80,227,749 V46G probably damaging Het
Gm2381 T G 7: 42,820,001 H233P probably damaging Het
Gm5148 T A 3: 37,714,846 Q75L probably damaging Het
Gm8369 T C 19: 11,504,806 V27A possibly damaging Het
Gpr157 T C 4: 150,102,368 S318P probably benign Het
Hectd4 G A 5: 121,266,274 V405M probably benign Het
Hemgn T C 4: 46,400,738 R41G probably benign Het
Hhipl1 T A 12: 108,328,208 L791Q probably damaging Het
Hjurp T G 1: 88,266,316 K290T probably benign Het
Ifi207 T C 1: 173,727,797 E773G probably damaging Het
Kcnh6 T C 11: 106,023,859 Y697H probably damaging Het
Lonrf2 T C 1: 38,807,153 T313A probably benign Het
Lrba G T 3: 86,368,595 V1757L probably benign Het
Lrrc24 T C 15: 76,716,106 T278A probably benign Het
Ltbp2 T C 12: 84,809,654 I679V probably null Het
Mapk4 G T 18: 73,931,002 T383K probably benign Het
Mdn1 C T 4: 32,723,690 P2542L probably damaging Het
Mia3 A G 1: 183,336,022 V208A probably benign Het
Myo15 C A 11: 60,520,777 C3234* probably null Het
Nlrp1b G T 11: 71,217,875 Q267K probably benign Het
Nphp3 A G 9: 104,004,723 K37E probably damaging Het
Nwd2 T C 5: 63,805,338 M755T probably damaging Het
Olfr482 A G 7: 108,094,742 V276A possibly damaging Het
Olfr655 A G 7: 104,596,821 F120S probably damaging Het
Olfr819 T A 10: 129,966,289 H137L probably benign Het
Pdlim5 C T 3: 142,352,734 R83K probably null Het
Plekha5 A T 6: 140,552,733 R173* probably null Het
Rbms3 T A 9: 117,251,785 D6V possibly damaging Het
Rhoq A T 17: 86,964,327 Y57F probably benign Het
Rrm1 A T 7: 102,451,023 T204S possibly damaging Het
Slf1 A T 13: 77,091,204 I447N probably benign Het
Smarcc2 T A 10: 128,488,074 probably benign Het
Spdye4c C T 2: 128,596,564 Q281* probably null Het
Tert T A 13: 73,644,284 M890K probably benign Het
Tln1 C A 4: 43,543,905 R1198L probably benign Het
Tmco4 A G 4: 139,020,867 M253V probably damaging Het
Usp19 G T 9: 108,497,920 V782F possibly damaging Het
Usp33 T A 3: 152,374,623 S464T probably damaging Het
Usp47 A T 7: 112,074,721 Y397F probably damaging Het
Vmn1r12 A G 6: 57,159,481 T144A probably benign Het
Vmn2r90 A T 17: 17,734,124 H850L probably benign Het
Wdr66 C T 5: 123,287,177 T294M probably damaging Het
Zfhx3 A T 8: 108,956,210 Q3427L unknown Het
Zfp236 G T 18: 82,682,156 Q63K probably benign Het
Zfp7 T A 15: 76,890,854 C365* probably null Het
Zfp786 T C 6: 47,819,685 E773G probably damaging Het
Other mutations in Gm13023
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00905:Gm13023 APN 4 143795274 missense probably benign 0.43
IGL01621:Gm13023 APN 4 143793932 missense probably benign
IGL01777:Gm13023 APN 4 143795118 missense possibly damaging 0.87
IGL02075:Gm13023 APN 4 143795032 missense probably benign 0.05
IGL02098:Gm13023 APN 4 143793678 critical splice donor site probably null
IGL02148:Gm13023 APN 4 143792734 missense probably benign 0.25
IGL02355:Gm13023 APN 4 143793010 missense probably damaging 1.00
IGL02362:Gm13023 APN 4 143793010 missense probably damaging 1.00
IGL02828:Gm13023 APN 4 143795125 missense possibly damaging 0.95
IGL03102:Gm13023 APN 4 143793546 missense possibly damaging 0.84
IGL03234:Gm13023 APN 4 143794936 missense probably benign 0.33
K3955:Gm13023 UTSW 4 143795140 missense possibly damaging 0.79
R0054:Gm13023 UTSW 4 143795002 missense probably damaging 1.00
R0637:Gm13023 UTSW 4 143793909 missense probably benign 0.35
R1227:Gm13023 UTSW 4 143793564 missense probably benign 0.00
R1370:Gm13023 UTSW 4 143795304 missense possibly damaging 0.94
R1709:Gm13023 UTSW 4 143793546 missense possibly damaging 0.84
R1982:Gm13023 UTSW 4 143795150 missense probably benign 0.02
R2292:Gm13023 UTSW 4 143793876 missense probably benign 0.08
R3087:Gm13023 UTSW 4 143793846 missense probably benign 0.25
R4235:Gm13023 UTSW 4 143794774 missense probably damaging 0.97
R4454:Gm13023 UTSW 4 143792824 missense probably benign 0.00
R4504:Gm13023 UTSW 4 143793983 missense probably benign 0.08
R4937:Gm13023 UTSW 4 143793837 missense possibly damaging 0.46
R5041:Gm13023 UTSW 4 143793690 missense probably benign 0.01
R5379:Gm13023 UTSW 4 143794923 missense probably benign 0.00
R5399:Gm13023 UTSW 4 143795032 missense probably benign 0.00
R6059:Gm13023 UTSW 4 143793980 missense possibly damaging 0.80
R6885:Gm13023 UTSW 4 143793533 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGAAAATCCTGGAATTGGAGTC -3'
(R):5'- CTCGGTTTCGCAATCAAGC -3'

Sequencing Primer
(F):5'- ATAGTGGACTTTCAGTTCAGTGCC -3'
(R):5'- CTCGGTTTCGCAATCAAGCTAATAG -3'
Posted On2016-09-01