Incidental Mutation 'R3078:Gm10801'
ID 332770
Institutional Source Beutler Lab
Gene Symbol Gm10801
Ensembl Gene ENSMUSG00000075015
Gene Name predicted gene 10801
Synonyms
MMRRC Submission 040568-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R3078 (G1)
Quality Score 26
Status Validated
Chromosome 2
Chromosomal Location 98492582-98494428 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98494197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 113 (I113T)
Ref Sequence ENSEMBL: ENSMUSP00000097276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099683] [ENSMUST00000099684]
AlphaFold F7C7Q0
Predicted Effect probably benign
Transcript: ENSMUST00000099683
SMART Domains Protein: ENSMUSP00000097275
Gene: ENSMUSG00000075014

DomainStartEndE-ValueType
internal_repeat_1 1 41 1.13e-5 PROSPERO
internal_repeat_2 26 49 4.11e-5 PROSPERO
transmembrane domain 78 96 N/A INTRINSIC
internal_repeat_1 114 174 1.13e-5 PROSPERO
low complexity region 177 188 N/A INTRINSIC
internal_repeat_2 197 219 4.11e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000099684
AA Change: I113T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015
AA Change: I113T

DomainStartEndE-ValueType
internal_repeat_1 2 73 1.19e-13 PROSPERO
internal_repeat_1 80 167 1.19e-13 PROSPERO
Meta Mutation Damage Score 0.6467 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
Abca12 T C 1: 71,306,764 (GRCm39) I1981V probably benign Het
Actr3b A G 5: 26,027,440 (GRCm39) Y37C probably damaging Het
Adgrd1 A T 5: 129,206,169 (GRCm39) I248F probably benign Het
Alg10b T C 15: 90,112,139 (GRCm39) S328P probably benign Het
C5ar2 G A 7: 15,971,349 (GRCm39) R193C probably damaging Het
Cct8 A G 16: 87,285,765 (GRCm39) V231A possibly damaging Het
Clca4a C T 3: 144,674,014 (GRCm39) M240I probably damaging Het
Cmya5 A T 13: 93,185,435 (GRCm39) I3520N probably damaging Het
Dock6 G T 9: 21,757,050 (GRCm39) probably benign Het
Dynlrb1 T A 2: 155,091,865 (GRCm39) I99N probably damaging Het
Ebf4 G A 2: 130,148,419 (GRCm39) D77N probably damaging Het
Fbxw10 C T 11: 62,758,339 (GRCm39) probably benign Het
Gm5499 T C 17: 87,386,314 (GRCm39) noncoding transcript Het
Gm9913 A G 2: 125,348,459 (GRCm39) probably benign Het
Herc2 A G 7: 55,786,991 (GRCm39) N1612S probably benign Het
Ifnar2 T C 16: 91,182,889 (GRCm39) S53P possibly damaging Het
Inpp5j T A 11: 3,453,124 (GRCm39) probably null Het
Insyn2a A G 7: 134,519,750 (GRCm39) I260T probably benign Het
Iqca1l G C 5: 24,751,664 (GRCm39) T528S probably benign Het
Kif14 T G 1: 136,447,383 (GRCm39) I1396S possibly damaging Het
Med28 A G 5: 45,679,820 (GRCm39) T68A possibly damaging Het
Meis1 A T 11: 18,961,254 (GRCm39) N206K probably benign Het
Mfsd14a T C 3: 116,441,566 (GRCm39) probably benign Het
Mnt G C 11: 74,733,936 (GRCm39) probably benign Het
Mto1 A G 9: 78,365,310 (GRCm39) Y413C probably damaging Het
Myo7b T C 18: 32,100,237 (GRCm39) D1599G probably benign Het
Myoz1 T C 14: 20,703,685 (GRCm39) probably benign Het
Nhsl2 C T X: 101,121,201 (GRCm39) R62W probably damaging Het
Npr2 T A 4: 43,640,182 (GRCm39) Y306N probably damaging Het
Nrxn3 T G 12: 89,227,186 (GRCm39) C274G probably damaging Het
Or1e29 G A 11: 73,667,466 (GRCm39) P229L possibly damaging Het
Or5ac22 A T 16: 59,135,089 (GRCm39) M227K probably benign Het
Phldb2 T C 16: 45,645,373 (GRCm39) T403A probably benign Het
Plaa T C 4: 94,458,042 (GRCm39) I643V probably benign Het
Slc28a2b T C 2: 122,344,895 (GRCm39) L167P possibly damaging Het
Stau1 T C 2: 166,796,936 (GRCm39) I154V possibly damaging Het
Ugcg T G 4: 59,213,922 (GRCm39) V168G probably damaging Het
Vmn2r2 T C 3: 64,042,053 (GRCm39) I221V probably benign Het
Wdr93 T C 7: 79,402,241 (GRCm39) I180T possibly damaging Het
Whamm G C 7: 81,221,532 (GRCm39) G155R probably damaging Het
Wnt5a T A 14: 28,235,140 (GRCm39) Y41* probably null Het
Other mutations in Gm10801
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Gm10801 APN 2 98,494,328 (GRCm39) missense probably benign
IGL01154:Gm10801 APN 2 98,494,328 (GRCm39) missense probably benign
Haplo UTSW 2 98,494,252 (GRCm39) splice site probably benign
Ladder UTSW 2 98,494,246 (GRCm39) splice site probably null
PIT4131001:Gm10801 UTSW 2 98,492,648 (GRCm39) missense probably benign
PIT4142001:Gm10801 UTSW 2 98,492,648 (GRCm39) missense probably benign
R0026:Gm10801 UTSW 2 98,494,254 (GRCm39) splice site probably benign
R0063:Gm10801 UTSW 2 98,494,185 (GRCm39) missense probably benign 0.30
R0334:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R0335:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R1172:Gm10801 UTSW 2 98,494,252 (GRCm39) splice site probably benign
R1321:Gm10801 UTSW 2 98,494,252 (GRCm39) splice site probably benign
R1871:Gm10801 UTSW 2 98,494,185 (GRCm39) missense probably benign 0.30
R1924:Gm10801 UTSW 2 98,494,197 (GRCm39) missense probably damaging 1.00
R2163:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R2306:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R2379:Gm10801 UTSW 2 98,494,185 (GRCm39) missense probably benign 0.30
R3605:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R3892:Gm10801 UTSW 2 98,494,246 (GRCm39) splice site probably null
R3930:Gm10801 UTSW 2 98,494,361 (GRCm39) missense possibly damaging 0.48
R4638:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R4709:Gm10801 UTSW 2 98,494,246 (GRCm39) splice site probably null
R5390:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R5405:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R5535:Gm10801 UTSW 2 98,492,844 (GRCm39) frame shift probably null
R5653:Gm10801 UTSW 2 98,494,396 (GRCm39) missense probably damaging 1.00
R5747:Gm10801 UTSW 2 98,494,352 (GRCm39) missense possibly damaging 0.66
R5987:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6086:Gm10801 UTSW 2 98,494,148 (GRCm39) nonsense probably null
R6090:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R6093:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6112:Gm10801 UTSW 2 98,494,409 (GRCm39) missense probably benign 0.00
R6184:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R6352:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R6357:Gm10801 UTSW 2 98,494,152 (GRCm39) frame shift probably null
R6395:Gm10801 UTSW 2 98,494,152 (GRCm39) small insertion probably benign
R6514:Gm10801 UTSW 2 98,494,214 (GRCm39) missense probably benign 0.19
R6547:Gm10801 UTSW 2 98,494,148 (GRCm39) nonsense probably null
R6560:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6640:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6675:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R6679:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R6684:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6758:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R6786:Gm10801 UTSW 2 98,494,148 (GRCm39) nonsense probably null
R6886:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R7783:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R8032:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R8684:Gm10801 UTSW 2 98,492,669 (GRCm39) frame shift probably null
R8831:Gm10801 UTSW 2 98,494,334 (GRCm39) missense probably damaging 0.96
R8843:Gm10801 UTSW 2 98,494,151 (GRCm39) small insertion probably benign
R8946:Gm10801 UTSW 2 98,492,669 (GRCm39) frame shift probably null
R9135:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R9136:Gm10801 UTSW 2 98,494,152 (GRCm39) nonsense probably null
R9423:Gm10801 UTSW 2 98,494,148 (GRCm39) nonsense probably null
R9773:Gm10801 UTSW 2 98,494,345 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATCTGTGTAGAAAGCTGTTGCTC -3'
(R):5'- TTTCTCTAGCCCCGGAAACC -3'

Sequencing Primer
(F):5'- TGGCTCAATGGCAGAGTGC -3'
(R):5'- CCCCGGAAACCTTGAGGAATATG -3'
Posted On 2015-08-17