Incidental Mutation 'R3763:AW146154'
ID 270591
Institutional Source Beutler Lab
Gene Symbol AW146154
Ensembl Gene ENSMUSG00000074166
Gene Name expressed sequence AW146154
Synonyms
MMRRC Submission 040873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R3763 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 41128298-41149314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41129794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 441 (C441R)
Ref Sequence ENSEMBL: ENSMUSP00000096109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000098509]
AlphaFold Q3TPQ7
Predicted Effect probably benign
Transcript: ENSMUST00000094532
Predicted Effect probably damaging
Transcript: ENSMUST00000098509
AA Change: C441R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096109
Gene: ENSMUSG00000074166
AA Change: C441R

DomainStartEndE-ValueType
KRAB 4 66 9.86e-14 SMART
ZnF_C2H2 75 97 9.08e1 SMART
ZnF_C2H2 131 153 7.78e-3 SMART
ZnF_C2H2 159 181 4.72e-2 SMART
ZnF_C2H2 187 209 3.63e-3 SMART
ZnF_C2H2 215 237 8.47e-4 SMART
ZnF_C2H2 243 265 4.24e-4 SMART
ZnF_C2H2 271 293 5.81e-2 SMART
ZnF_C2H2 299 321 2.61e-4 SMART
ZnF_C2H2 327 349 2.12e-4 SMART
ZnF_C2H2 355 377 1.6e-4 SMART
ZnF_C2H2 383 405 8.47e-4 SMART
ZnF_C2H2 411 433 6.88e-4 SMART
ZnF_C2H2 439 461 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205572
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,331 (GRCm39) E29G possibly damaging Het
Aff3 A G 1: 38,291,770 (GRCm39) probably benign Het
Cacna1a T C 8: 85,310,271 (GRCm39) V1443A possibly damaging Het
Commd1 T A 11: 22,924,102 (GRCm39) F292Y probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ddx18 A G 1: 121,489,106 (GRCm39) Y314H probably damaging Het
Dna2 C T 10: 62,802,576 (GRCm39) T898I probably damaging Het
Epc1 C A 18: 6,440,091 (GRCm39) V59L possibly damaging Het
Etv6 C A 6: 134,239,975 (GRCm39) probably benign Het
Fam118a A G 15: 84,937,998 (GRCm39) D293G possibly damaging Het
Gzmn A C 14: 56,404,361 (GRCm39) S159A probably benign Het
Insc A G 7: 114,390,207 (GRCm39) D26G probably damaging Het
L1td1 A G 4: 98,626,072 (GRCm39) R756G probably damaging Het
Ltk A G 2: 119,582,318 (GRCm39) L499P probably benign Het
Mast4 A T 13: 102,923,927 (GRCm39) L291M probably damaging Het
Nefm G T 14: 68,361,797 (GRCm39) R156S probably damaging Het
Nppc T A 1: 86,597,580 (GRCm39) N63Y probably damaging Het
Or5p79 A T 7: 108,221,924 (GRCm39) I302F probably damaging Het
Or6c69 A G 10: 129,747,314 (GRCm39) S278P probably damaging Het
Pcdhb7 T C 18: 37,474,936 (GRCm39) V24A probably benign Het
Pcm1 C A 8: 41,733,114 (GRCm39) Q787K probably damaging Het
Prg3 A G 2: 84,823,334 (GRCm39) K170E possibly damaging Het
Slc25a54 T C 3: 109,019,370 (GRCm39) S325P probably damaging Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Spock3 T A 8: 63,597,049 (GRCm39) probably null Het
Stk-ps2 G A 1: 46,069,081 (GRCm39) noncoding transcript Het
Svep1 T G 4: 58,084,833 (GRCm39) D1835A possibly damaging Het
Tmcc3 A G 10: 94,415,179 (GRCm39) T294A probably benign Het
Tsen54 A G 11: 115,711,237 (GRCm39) N62S probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vmn2r18 G A 5: 151,508,644 (GRCm39) A160V probably damaging Het
Wnk4 T C 11: 101,160,114 (GRCm39) V661A probably benign Het
Zfhx4 A G 3: 5,468,404 (GRCm39) Y2854C probably damaging Het
Zfp563 G T 17: 33,323,902 (GRCm39) E166* probably null Het
Zfp687 T A 3: 94,919,391 (GRCm39) N127I probably damaging Het
Zfp958 T A 8: 4,676,226 (GRCm39) probably null Het
Other mutations in AW146154
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:AW146154 APN 7 41,129,883 (GRCm39) missense probably damaging 1.00
R1351:AW146154 UTSW 7 41,129,878 (GRCm39) missense probably damaging 1.00
R4829:AW146154 UTSW 7 41,130,057 (GRCm39) missense possibly damaging 0.62
R4835:AW146154 UTSW 7 41,129,892 (GRCm39) missense probably damaging 1.00
R5326:AW146154 UTSW 7 41,130,801 (GRCm39) missense probably benign 0.00
R5542:AW146154 UTSW 7 41,130,801 (GRCm39) missense probably benign 0.00
R5976:AW146154 UTSW 7 41,129,721 (GRCm39) missense probably damaging 0.99
R6252:AW146154 UTSW 7 41,130,811 (GRCm39) missense probably benign 0.10
R7006:AW146154 UTSW 7 41,130,648 (GRCm39) missense possibly damaging 0.50
R7053:AW146154 UTSW 7 41,131,988 (GRCm39) critical splice donor site probably null
R7096:AW146154 UTSW 7 41,130,867 (GRCm39) missense probably benign 0.32
R7649:AW146154 UTSW 7 41,130,156 (GRCm39) missense probably benign 0.13
R8069:AW146154 UTSW 7 41,129,935 (GRCm39) missense probably benign 0.01
R8085:AW146154 UTSW 7 41,130,622 (GRCm39) missense probably damaging 1.00
R8085:AW146154 UTSW 7 41,130,621 (GRCm39) missense possibly damaging 0.61
R8266:AW146154 UTSW 7 41,130,592 (GRCm39) nonsense probably null
R8698:AW146154 UTSW 7 41,129,934 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTCAAAACTACTGTGATATGCAAAGGC -3'
(R):5'- CTTTGCACAACAAGGTCATCTCAG -3'

Sequencing Primer
(F):5'- ACTGTGATATGCAAAGGCTTTAATAG -3'
(R):5'- TGCACAACAAGGTCATCTCAGAATAC -3'
Posted On 2015-03-18