Incidental Mutation 'R1614:1700125H20Rik'
ID177006
Institutional Source Beutler Lab
Gene Symbol 1700125H20Rik
Ensembl Gene ENSMUSG00000018479
Gene NameRIKEN cDNA 1700125H20 gene
Synonyms
MMRRC Submission 039651-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #R1614 (G1)
Quality Score176
Status Validated
Chromosome11
Chromosomal Location85170404-85181145 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 85172864 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 28 (S28A)
Ref Sequence ENSEMBL: ENSMUSP00000018623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018623] [ENSMUST00000100681]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018623
AA Change: S28A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018623
Gene: ENSMUSG00000018479
AA Change: S28A

DomainStartEndE-ValueType
DUF4208 31 134 1.43e-35 SMART
low complexity region 211 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100681
SMART Domains Protein: ENSMUSP00000098248
Gene: ENSMUSG00000018479

DomainStartEndE-ValueType
Blast:DUF4208 1 24 1e-7 BLAST
low complexity region 101 120 N/A INTRINSIC
Meta Mutation Damage Score 0.188 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl9 A G 5: 77,010,565 T165A probably benign Het
Atpaf1 A T 4: 115,796,757 K201N possibly damaging Het
Cacna1b G T 2: 24,690,807 Q676K possibly damaging Het
Ccdc88c A T 12: 100,912,984 H1959Q probably benign Het
Cep162 T C 9: 87,212,932 D808G probably damaging Het
Chtf18 A G 17: 25,727,090 L42P probably benign Het
Cox7c A G 13: 86,045,785 F40L probably benign Het
Dock7 C T 4: 99,061,280 V442I probably benign Het
Dst T C 1: 34,275,263 F4198S probably damaging Het
Fam13a T A 6: 58,940,184 D569V probably damaging Het
Gm6741 T A 17: 91,236,996 H62Q probably benign Het
Gnptab A G 10: 88,414,589 T172A probably benign Het
Greb1 A G 12: 16,701,171 S1013P probably damaging Het
Insl5 A T 4: 103,026,649 L25* probably null Het
Ipo13 A G 4: 117,904,618 S462P probably benign Het
Itgb1 G A 8: 128,720,065 C401Y probably damaging Het
Kcnh7 G T 2: 62,850,604 A213E probably benign Het
Kcnv1 G A 15: 45,114,444 T66M probably damaging Het
Mesp2 T C 7: 79,811,619 S231P probably benign Het
Nabp1 T C 1: 51,471,352 N164D possibly damaging Het
Nop53 A G 7: 15,945,965 V30A probably benign Het
Olfr1246 T A 2: 89,590,696 I140L possibly damaging Het
Olfr1278 T A 2: 111,293,066 V266E probably damaging Het
Olfr1318 T A 2: 112,156,517 C189S probably damaging Het
Olfr346 T G 2: 36,688,309 Y102* probably null Het
Pcsk5 G A 19: 17,515,256 R918C probably damaging Het
Pecam1 T C 11: 106,681,079 D554G probably benign Het
Polr2a T C 11: 69,743,373 I744V possibly damaging Het
Pop1 C A 15: 34,530,210 A918D possibly damaging Het
Ppp2r5e C G 12: 75,469,567 A239P probably damaging Het
Prmt3 A T 7: 49,826,719 I359F possibly damaging Het
Proz G A 8: 13,066,904 C152Y probably damaging Het
Ptgfr A C 3: 151,801,779 Y316D probably benign Het
Ralgapa2 G T 2: 146,388,612 S1011Y probably damaging Het
Rnf43 C T 11: 87,731,659 R529* probably null Het
Slc17a6 G A 7: 51,646,277 probably benign Het
Slc25a19 A T 11: 115,616,623 C224* probably null Het
Smarcd3 A G 5: 24,594,876 S299P possibly damaging Het
Stard9 T C 2: 120,697,675 F1471S possibly damaging Het
Strada A C 11: 106,168,319 V211G probably damaging Het
Tom1l1 T C 11: 90,683,254 E68G probably damaging Het
Vmn2r27 T G 6: 124,223,934 I355L probably benign Het
Vmn2r68 A T 7: 85,221,738 M779K possibly damaging Het
Zbtb18 T C 1: 177,447,170 L23P probably damaging Het
Zfp112 G T 7: 24,126,599 C664F probably damaging Het
Zfp955a A T 17: 33,242,332 N275K possibly damaging Het
Other mutations in 1700125H20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:1700125H20Rik APN 11 85178312 missense probably damaging 0.97
IGL01745:1700125H20Rik APN 11 85172870 missense probably benign 0.02
R0178:1700125H20Rik UTSW 11 85178438 missense probably benign 0.09
R3161:1700125H20Rik UTSW 11 85173284 missense probably damaging 0.98
R5707:1700125H20Rik UTSW 11 85173312 missense probably benign 0.39
R5796:1700125H20Rik UTSW 11 85173275 missense probably null 0.77
R6033:1700125H20Rik UTSW 11 85178372 missense probably damaging 1.00
R6033:1700125H20Rik UTSW 11 85178372 missense probably damaging 1.00
X0066:1700125H20Rik UTSW 11 85178349 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CCTGGCAATGTTTTGAGAGAGGGAG -3'
(R):5'- ACAAAGGGCTGTGTGCTCACAAG -3'

Sequencing Primer
(F):5'- gagagagggagggagagag -3'
(R):5'- TGTGCTCACAAGGCTCCAG -3'
Posted On2014-04-24