Incidental Mutation 'R0701:Gm10912'
ID 62997
Institutional Source Beutler Lab
Gene Symbol Gm10912
Ensembl Gene ENSMUSG00000078091
Gene Name predicted gene 10912
Synonyms
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R0701 (G1)
Quality Score 185
Status Not validated
Chromosome 2
Chromosomal Location 103896142-103897831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103896875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 5 (S5P)
Ref Sequence ENSEMBL: ENSMUSP00000100487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028603] [ENSMUST00000090429] [ENSMUST00000099666] [ENSMUST00000104891] [ENSMUST00000111130] [ENSMUST00000111131] [ENSMUST00000111132] [ENSMUST00000129749] [ENSMUST00000111136]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000028603
SMART Domains Protein: ENSMUSP00000028603
Gene: ENSMUSG00000027180

DomainStartEndE-ValueType
FBOX 16 56 2.83e-4 SMART
SMI1_KNR4 121 251 3.02e-5 SMART
Pfam:DUF525 294 384 3.1e-30 PFAM
coiled coil region 417 446 N/A INTRINSIC
low complexity region 462 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090429
SMART Domains Protein: ENSMUSP00000087912
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099666
SMART Domains Protein: ENSMUSP00000097259
Gene: ENSMUSG00000075006

DomainStartEndE-ValueType
low complexity region 86 99 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000104891
AA Change: S5P

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100487
Gene: ENSMUSG00000078091
AA Change: S5P

DomainStartEndE-ValueType
low complexity region 87 100 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111130
SMART Domains Protein: ENSMUSP00000106760
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111131
SMART Domains Protein: ENSMUSP00000106761
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 84 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111132
SMART Domains Protein: ENSMUSP00000106762
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:UPAR_LY6 26 55 1.2e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129749
SMART Domains Protein: ENSMUSP00000117553
Gene: ENSMUSG00000068686

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LU 24 104 1.88e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111136
SMART Domains Protein: ENSMUSP00000106766
Gene: ENSMUSG00000027180

DomainStartEndE-ValueType
FBOX 16 56 2.83e-4 SMART
SMI1_KNR4 121 251 3.02e-5 SMART
Pfam:DUF525 293 361 1.2e-19 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably damaging Het
Other mutations in Gm10912
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02588:Gm10912 APN 2 103,897,197 (GRCm39) unclassified probably benign
R0197:Gm10912 UTSW 2 103,896,875 (GRCm39) missense probably benign 0.09
R0511:Gm10912 UTSW 2 103,897,290 (GRCm39) unclassified probably benign
R0883:Gm10912 UTSW 2 103,896,875 (GRCm39) missense probably benign 0.09
R5945:Gm10912 UTSW 2 103,896,961 (GRCm39) missense possibly damaging 0.83
R6550:Gm10912 UTSW 2 103,896,996 (GRCm39) missense possibly damaging 0.92
R7022:Gm10912 UTSW 2 103,897,055 (GRCm39) missense probably damaging 0.97
R8789:Gm10912 UTSW 2 103,897,046 (GRCm39) missense possibly damaging 0.82
R9146:Gm10912 UTSW 2 103,897,053 (GRCm39) missense possibly damaging 0.46
X0027:Gm10912 UTSW 2 103,896,947 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- CGAGAGTGCCCAGAGCAGACATAAAA -3'
(R):5'- GGGAGCATCCAGGCTGCTGA -3'

Sequencing Primer
(F):5'- ttttccttcagcagtcaataatcc -3'
(R):5'- GGCTGCTGACAAAATATGTCC -3'
Posted On 2013-07-30