Incidental Mutation 'R4235:Gm13023'
ID321058
Institutional Source Beutler Lab
Gene Symbol Gm13023
Ensembl Gene ENSMUSG00000066031
Gene Namepredicted gene 13023
SynonymsMGC:91194
MMRRC Submission 041052-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R4235 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location143789352-143795575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 143794774 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 320 (C320S)
Ref Sequence ENSEMBL: ENSMUSP00000082232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085144] [ENSMUST00000105770] [ENSMUST00000149739]
Predicted Effect probably damaging
Transcript: ENSMUST00000085144
AA Change: C320S

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: C320S

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
Meta Mutation Damage Score 0.5351 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 70,394,529 A53T probably benign Het
5730596B20Rik G T 6: 52,178,961 probably benign Het
9530053A07Rik T A 7: 28,156,648 D1953E probably damaging Het
Akap6 T A 12: 53,139,671 N1289K probably damaging Het
Arhgap21 A G 2: 20,887,137 V161A probably damaging Het
Arhgef18 T C 8: 3,450,317 I541T possibly damaging Het
Atp7b A G 8: 22,011,023 Y955H possibly damaging Het
Bnc2 A G 4: 84,293,514 V231A probably damaging Het
Bod1l A G 5: 41,821,455 S839P probably damaging Het
Casp8 T A 1: 58,833,698 H264Q possibly damaging Het
Cc2d1b A T 4: 108,625,352 probably benign Het
Cpne6 A T 14: 55,513,600 probably benign Het
Ddx1 C T 12: 13,223,857 V590I possibly damaging Het
Dgkd T A 1: 87,931,982 L774* probably null Het
Fbxl2 T A 9: 113,989,163 N205I probably benign Het
Fkbp15 A T 4: 62,336,456 I269K probably benign Het
Gm26678 T C 3: 54,633,083 noncoding transcript Het
Has1 G T 17: 17,850,036 R208S possibly damaging Het
Hecw1 C G 13: 14,317,139 A423P probably benign Het
Hspa12b T C 2: 131,139,012 V162A probably benign Het
Ifi208 T G 1: 173,682,911 S211A probably benign Het
Ighv6-3 T C 12: 114,391,874 E65G probably damaging Het
Igkv9-120 A T 6: 68,050,333 D77V probably benign Het
Impg1 A G 9: 80,345,329 L523P probably damaging Het
Ip6k2 G A 9: 108,805,648 R319Q probably benign Het
Kdm2a A G 19: 4,322,521 I932T probably damaging Het
Krt17 T C 11: 100,257,868 T279A possibly damaging Het
Lamp1 T C 8: 13,167,192 V67A possibly damaging Het
Limk1 T C 5: 134,670,478 I142V probably benign Het
Mamdc2 T C 19: 23,374,017 N182D possibly damaging Het
Mcpt1 G A 14: 56,018,560 probably null Het
Med12l T G 3: 59,257,223 probably null Het
Mfsd10 G T 5: 34,635,625 T44N probably damaging Het
Mrps27 T C 13: 99,405,041 S218P probably damaging Het
Mrps30 T C 13: 118,386,840 D132G probably damaging Het
Neil2 A C 14: 63,191,841 M1R probably null Het
Nelfcd T C 2: 174,427,048 F587L probably damaging Het
Nfil3 T C 13: 52,968,799 D23G probably benign Het
Nit2 T C 16: 57,157,160 K169R probably benign Het
Nxt1 T C 2: 148,675,347 S3P probably benign Het
Ogt A G X: 101,667,525 N434D probably damaging Het
Olfr679 T A 7: 105,085,787 S24T possibly damaging Het
Pcdhga5 A G 18: 37,695,948 D483G possibly damaging Het
Ralgapa1 C T 12: 55,640,644 R2019Q probably damaging Het
Rsl1 T C 13: 67,177,162 probably null Het
Sobp G A 10: 43,022,900 H230Y probably damaging Het
Sptan1 A G 2: 30,026,588 E2096G probably damaging Het
Tie1 G T 4: 118,478,405 S797* probably null Het
Tmem266 T C 9: 55,418,107 I186T probably damaging Het
Tmem38b T C 4: 53,840,710 C66R probably damaging Het
Tnfaip6 T C 2: 52,050,864 F139S probably damaging Het
Tnrc6a T C 7: 123,171,680 S898P probably benign Het
Trim24 A G 6: 37,964,740 D911G probably damaging Het
Tyw5 T C 1: 57,388,488 probably benign Het
Ubr3 C T 2: 70,016,385 Q1651* probably null Het
Unc13c T A 9: 73,530,952 I1943F possibly damaging Het
Usp47 T A 7: 112,110,048 S1334T probably damaging Het
Vmn1r215 T A 13: 23,075,931 V47E probably benign Het
Vmn1r224 T A 17: 20,419,362 M67K possibly damaging Het
Wdfy3 T A 5: 101,922,634 probably null Het
Zfc3h1 T C 10: 115,418,799 Y1433H probably benign 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
BB004:Gm13023 UTSW 4 143792966 missense probably benign 0.29
BB014:Gm13023 UTSW 4 143792966 missense probably benign 0.29
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
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
R5445:Gm13023 UTSW 4 143795137 missense possibly damaging 0.50
R6059:Gm13023 UTSW 4 143793980 missense possibly damaging 0.80
R6885:Gm13023 UTSW 4 143793533 missense probably damaging 1.00
R7846:Gm13023 UTSW 4 143793993 missense probably benign 0.02
R7927:Gm13023 UTSW 4 143792966 missense probably benign 0.29
R8285:Gm13023 UTSW 4 143794066 missense probably benign 0.02
R8840:Gm13023 UTSW 4 143795068 missense probably damaging 1.00
R8849:Gm13023 UTSW 4 143795026 missense probably damaging 0.99
R8921:Gm13023 UTSW 4 143792752 nonsense probably null
Z1177:Gm13023 UTSW 4 143794981 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATACTGTGAGTTGTGAGAGCAG -3'
(R):5'- CAAGGCACTGAACTGAAAGTCC -3'

Sequencing Primer
(F):5'- GATAACACAAGGCCGTATCCTAG -3'
(R):5'- GGCACTGAACTGAAAGTCCACTATAC -3'
Posted On2015-06-12