Incidental Mutation 'R1289:Gm14401'
ID 150724
Institutional Source Beutler Lab
Gene Symbol Gm14401
Ensembl Gene ENSMUSG00000078872
Gene Name predicted gene 14401
Synonyms
MMRRC Submission 039355-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.196) question?
Stock # R1289 (G1)
Quality Score 123
Status Not validated
Chromosome 2
Chromosomal Location 176778122-176779598 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 176778789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 292 (Y292H)
Ref Sequence ENSEMBL: ENSMUSP00000119549 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108968] [ENSMUST00000108970] [ENSMUST00000134614]
AlphaFold A2ARV7
Predicted Effect probably benign
Transcript: ENSMUST00000108968
SMART Domains Protein: ENSMUSP00000104596
Gene: ENSMUSG00000078872

DomainStartEndE-ValueType
KRAB 4 64 1.21e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108969
Predicted Effect possibly damaging
Transcript: ENSMUST00000108970
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104598
Gene: ENSMUSG00000078872
AA Change: Y292H

DomainStartEndE-ValueType
KRAB 4 66 9.34e-15 SMART
Pfam:zf-C2H2_4 69 98 4.5e-2 PFAM
ZnF_C2H2 103 125 2.09e-3 SMART
ZnF_C2H2 131 153 6.88e-4 SMART
ZnF_C2H2 159 181 5.9e-3 SMART
ZnF_C2H2 187 209 4.01e-5 SMART
ZnF_C2H2 215 237 2.91e-2 SMART
ZnF_C2H2 243 265 1.21e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121260
Predicted Effect possibly damaging
Transcript: ENSMUST00000134614
AA Change: Y292H

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119549
Gene: ENSMUSG00000078872
AA Change: Y292H

DomainStartEndE-ValueType
KRAB 4 66 9.34e-15 SMART
ZnF_C2H2 103 125 2.09e-3 SMART
ZnF_C2H2 131 153 6.88e-4 SMART
ZnF_C2H2 159 181 5.9e-3 SMART
ZnF_C2H2 187 209 4.01e-5 SMART
ZnF_C2H2 215 237 2.91e-2 SMART
ZnF_C2H2 243 265 1.21e2 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,756 (GRCm39) Y367* probably null Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arap3 T C 18: 38,115,026 (GRCm39) R997G possibly damaging Het
Brd10 T C 19: 29,700,852 (GRCm39) I745M probably benign Het
Col22a1 T G 15: 71,709,226 (GRCm39) K655T unknown Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Glcci1 G A 6: 8,593,088 (GRCm39) V298I possibly damaging Het
Gm9956 T A 10: 56,621,676 (GRCm39) S113T probably damaging Het
Gpr75 T C 11: 30,842,706 (GRCm39) I537T probably benign Het
Hars2 T G 18: 36,916,465 (GRCm39) probably null Het
Helq A G 5: 100,944,330 (GRCm39) V260A probably damaging Het
Ift172 A C 5: 31,438,320 (GRCm39) F46V probably damaging Het
Klk1b9 A T 7: 43,627,848 (GRCm39) I49L probably benign Het
Lrrk2 T G 15: 91,696,563 (GRCm39) N2450K probably benign Het
Mtor T C 4: 148,554,764 (GRCm39) V867A probably benign Het
Nlgn1 G T 3: 25,488,400 (GRCm39) T645K possibly damaging Het
Nphs1 T C 7: 30,170,603 (GRCm39) L931P probably damaging Het
Phf19 T C 2: 34,786,042 (GRCm39) T476A probably benign Het
Rnf169 T C 7: 99,574,943 (GRCm39) I551V probably benign Het
Ryr3 T A 2: 112,475,630 (GRCm39) E4472V probably damaging Het
Tek T G 4: 94,693,067 (GRCm39) F209V probably damaging Het
Vmn1r234 CTT CTTT 17: 21,449,513 (GRCm39) probably null Het
Other mutations in Gm14401
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Gm14401 APN 2 176,778,625 (GRCm39) missense probably damaging 1.00
FR4548:Gm14401 UTSW 2 176,778,661 (GRCm39) missense probably benign
R3967:Gm14401 UTSW 2 176,778,789 (GRCm39) missense possibly damaging 0.76
R3968:Gm14401 UTSW 2 176,778,789 (GRCm39) missense possibly damaging 0.76
R3970:Gm14401 UTSW 2 176,778,789 (GRCm39) missense possibly damaging 0.76
R4476:Gm14401 UTSW 2 176,778,570 (GRCm39) nonsense probably null
R4627:Gm14401 UTSW 2 176,778,109 (GRCm39) missense probably benign
R4897:Gm14401 UTSW 2 176,778,573 (GRCm39) missense probably damaging 1.00
R5245:Gm14401 UTSW 2 176,778,471 (GRCm39) missense probably damaging 0.99
R5660:Gm14401 UTSW 2 176,778,224 (GRCm39) missense probably damaging 0.96
R5834:Gm14401 UTSW 2 176,778,696 (GRCm39) missense probably benign 0.25
R8025:Gm14401 UTSW 2 176,778,249 (GRCm39) missense probably damaging 1.00
R9499:Gm14401 UTSW 2 176,778,337 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- GGCATCAAATTAAAcatactggagagaaacac -3'
(R):5'- CCTTTATATATTTGGAGGCCACTGCTTCAT -3'

Sequencing Primer
(F):5'- catctccgaatacataagcgaac -3'
(R):5'- GGTGTAAAGGCACCATTGC -3'
Posted On 2014-01-29