Incidental Mutation 'R3078:Gm14085'
ID 265274
Institutional Source Beutler Lab
Gene Symbol Gm14085
Ensembl Gene ENSMUSG00000079071
Gene Name predicted gene 14085
Synonyms
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R3078 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 122484941-122528040 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122514414 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 167 (L167P)
Ref Sequence ENSEMBL: ENSMUSP00000106150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110521]
AlphaFold A2AWR5
Predicted Effect possibly damaging
Transcript: ENSMUST00000110521
AA Change: L167P

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106150
Gene: ENSMUSG00000079071
AA Change: L167P

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
transmembrane domain 103 125 N/A INTRINSIC
transmembrane domain 149 166 N/A INTRINSIC
Pfam:Nucleos_tra2_N 180 253 2.3e-28 PFAM
Pfam:Gate 260 360 1.7e-10 PFAM
Pfam:Nucleos_tra2_C 363 587 4.6e-70 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 93% (42/45)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931409K22Rik G C 5: 24,546,666 (GRCm38) T528S probably benign Het
Abca12 T C 1: 71,267,605 (GRCm38) I1981V probably benign Het
Actr3b A G 5: 25,822,442 (GRCm38) Y37C probably damaging Het
Adgrd1 A T 5: 129,129,105 (GRCm38) I248F probably benign Het
Alg10b T C 15: 90,227,936 (GRCm38) S328P probably benign Het
C5ar2 G A 7: 16,237,424 (GRCm38) R193C probably damaging Het
Cct8 A G 16: 87,488,877 (GRCm38) V231A possibly damaging Het
Clca4a C T 3: 144,968,253 (GRCm38) M240I probably damaging Het
Cmya5 A T 13: 93,048,927 (GRCm38) I3520N probably damaging Het
Dock6 G T 9: 21,845,754 (GRCm38) probably benign Het
Dynlrb1 T A 2: 155,249,945 (GRCm38) I99N probably damaging Het
Ebf4 G A 2: 130,306,499 (GRCm38) D77N probably damaging Het
Fam196a A G 7: 134,918,021 (GRCm38) I260T probably benign Het
Fbxw10 C T 11: 62,867,513 (GRCm38) probably benign Het
Gm10801 T C 2: 98,663,852 (GRCm38) I113T probably damaging Het
Gm5499 T C 17: 87,078,886 (GRCm38) noncoding transcript Het
Gm9913 A G 2: 125,506,539 (GRCm38) probably benign Het
Herc2 A G 7: 56,137,243 (GRCm38) N1612S probably benign Het
Ifnar2 T C 16: 91,386,001 (GRCm38) S53P possibly damaging Het
Inpp5j T A 11: 3,503,124 (GRCm38) probably null Het
Kif14 T G 1: 136,519,645 (GRCm38) I1396S possibly damaging Het
Med28 A G 5: 45,522,478 (GRCm38) T68A possibly damaging Het
Meis1 A T 11: 19,011,254 (GRCm38) N206K probably benign Het
Mfsd14a T C 3: 116,647,917 (GRCm38) probably benign Het
Mnt G C 11: 74,843,110 (GRCm38) probably benign Het
Mto1 A G 9: 78,458,028 (GRCm38) Y413C probably damaging Het
Myo7b T C 18: 31,967,184 (GRCm38) D1599G probably benign Het
Myoz1 T C 14: 20,653,617 (GRCm38) probably benign Het
Nhsl2 C T X: 102,077,595 (GRCm38) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm38) Y306N probably damaging Het
Nrxn3 T G 12: 89,260,416 (GRCm38) C274G probably damaging Het
Olfr204 A T 16: 59,314,726 (GRCm38) M227K probably benign Het
Olfr389 G A 11: 73,776,640 (GRCm38) P229L possibly damaging Het
Phldb2 T C 16: 45,825,010 (GRCm38) T403A probably benign Het
Plaa T C 4: 94,569,805 (GRCm38) I643V probably benign Het
Stau1 T C 2: 166,955,016 (GRCm38) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm38) V168G probably damaging Het
Vmn2r2 T C 3: 64,134,632 (GRCm38) I221V probably benign Het
Wdr93 T C 7: 79,752,493 (GRCm38) I180T possibly damaging Het
Whamm G C 7: 81,571,784 (GRCm38) G155R probably damaging Het
Wnt5a T A 14: 28,513,183 (GRCm38) Y41* probably null Het
Other mutations in Gm14085
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Gm14085 APN 2 122,517,046 (GRCm38) missense probably damaging 0.98
IGL01160:Gm14085 APN 2 122,524,796 (GRCm38) critical splice acceptor site probably null
IGL01838:Gm14085 APN 2 122,517,983 (GRCm38) missense possibly damaging 0.65
IGL01895:Gm14085 APN 2 122,525,091 (GRCm38) missense possibly damaging 0.75
IGL02999:Gm14085 APN 2 122,514,514 (GRCm38) splice site probably benign
Wilted UTSW 2 122,523,482 (GRCm38) missense probably damaging 1.00
K2124:Gm14085 UTSW 2 122,525,153 (GRCm38) missense probably benign 0.00
R0084:Gm14085 UTSW 2 122,522,833 (GRCm38) missense possibly damaging 0.95
R0092:Gm14085 UTSW 2 122,517,597 (GRCm38) splice site probably benign
R0127:Gm14085 UTSW 2 122,517,069 (GRCm38) critical splice donor site probably null
R0200:Gm14085 UTSW 2 122,527,447 (GRCm38) makesense probably null
R0276:Gm14085 UTSW 2 122,521,928 (GRCm38) missense probably damaging 1.00
R0309:Gm14085 UTSW 2 122,517,553 (GRCm38) missense probably benign 0.04
R0403:Gm14085 UTSW 2 122,521,854 (GRCm38) missense probably damaging 1.00
R0600:Gm14085 UTSW 2 122,514,398 (GRCm38) missense probably damaging 0.97
R0612:Gm14085 UTSW 2 122,521,698 (GRCm38) missense probably damaging 1.00
R1676:Gm14085 UTSW 2 122,521,859 (GRCm38) missense probably damaging 0.99
R1801:Gm14085 UTSW 2 122,521,652 (GRCm38) missense possibly damaging 0.57
R1986:Gm14085 UTSW 2 122,527,429 (GRCm38) missense probably benign 0.00
R2050:Gm14085 UTSW 2 122,522,868 (GRCm38) missense probably benign 0.21
R4075:Gm14085 UTSW 2 122,514,411 (GRCm38) missense probably benign 0.00
R4096:Gm14085 UTSW 2 122,522,728 (GRCm38) missense probably damaging 1.00
R4744:Gm14085 UTSW 2 122,522,805 (GRCm38) nonsense probably null
R4796:Gm14085 UTSW 2 122,514,459 (GRCm38) missense probably damaging 0.99
R5033:Gm14085 UTSW 2 122,522,914 (GRCm38) critical splice donor site probably null
R5069:Gm14085 UTSW 2 122,494,373 (GRCm38) missense possibly damaging 0.93
R5288:Gm14085 UTSW 2 122,522,778 (GRCm38) missense probably benign 0.01
R5385:Gm14085 UTSW 2 122,522,778 (GRCm38) missense probably benign 0.01
R5386:Gm14085 UTSW 2 122,522,778 (GRCm38) missense probably benign 0.01
R5442:Gm14085 UTSW 2 122,486,869 (GRCm38) missense probably benign
R5795:Gm14085 UTSW 2 122,517,994 (GRCm38) missense possibly damaging 0.79
R6258:Gm14085 UTSW 2 122,523,482 (GRCm38) missense probably damaging 1.00
R6260:Gm14085 UTSW 2 122,523,482 (GRCm38) missense probably damaging 1.00
R6383:Gm14085 UTSW 2 122,524,807 (GRCm38) missense probably benign 0.00
R7226:Gm14085 UTSW 2 122,522,532 (GRCm38) missense probably benign 0.00
R7574:Gm14085 UTSW 2 122,522,844 (GRCm38) missense not run
R7633:Gm14085 UTSW 2 122,486,680 (GRCm38) missense probably null 0.05
R7705:Gm14085 UTSW 2 122,521,629 (GRCm38) critical splice acceptor site probably null
R7726:Gm14085 UTSW 2 122,486,733 (GRCm38) missense probably damaging 0.99
R7998:Gm14085 UTSW 2 122,494,358 (GRCm38) missense probably damaging 0.97
R8269:Gm14085 UTSW 2 122,521,688 (GRCm38) missense probably damaging 1.00
R8337:Gm14085 UTSW 2 122,525,136 (GRCm38) missense probably benign 0.06
R8546:Gm14085 UTSW 2 122,522,754 (GRCm38) missense probably benign 0.14
R8817:Gm14085 UTSW 2 122,518,507 (GRCm38) missense possibly damaging 0.95
R8931:Gm14085 UTSW 2 122,518,502 (GRCm38) missense
R9070:Gm14085 UTSW 2 122,521,673 (GRCm38) missense probably damaging 1.00
R9542:Gm14085 UTSW 2 122,494,341 (GRCm38) missense probably benign 0.26
R9702:Gm14085 UTSW 2 122,523,531 (GRCm38) missense probably damaging 1.00
R9782:Gm14085 UTSW 2 122,521,857 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGATCATTCTCAAGGTTCCTCTCTG -3'
(R):5'- GAGCTGTCAGGAGAAGATTCCG -3'

Sequencing Primer
(F):5'- GTTCCTCTCTGTGTAATGAATAAGCC -3'
(R):5'- TTATGATGAGTACCTGACATGGGCAC -3'
Posted On 2015-02-05