Incidental Mutation 'R6881:4931406C07Rik'
ID 536671
Institutional Source Beutler Lab
Gene Symbol 4931406C07Rik
Ensembl Gene ENSMUSG00000031938
Gene Name RIKEN cDNA 4931406C07 gene
Synonyms
MMRRC Submission 045030-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6881 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 15194633-15217744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 15202061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 187 (C187G)
Ref Sequence ENSEMBL: ENSMUSP00000136717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034414] [ENSMUST00000178977] [ENSMUST00000180339] [ENSMUST00000216955]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000034414
AA Change: C187G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000034414
Gene: ENSMUSG00000031938
AA Change: C187G

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000178977
AA Change: C187G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136335
Gene: ENSMUSG00000031938
AA Change: C187G

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000180339
AA Change: C187G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136717
Gene: ENSMUSG00000031938
AA Change: C187G

DomainStartEndE-ValueType
DUF1907 19 303 3.83e-200 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000216955
AA Change: C154G

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a C T 17: 35,315,577 (GRCm39) T208I probably benign Het
Ahcyl1 A T 3: 107,575,425 (GRCm39) H425Q probably damaging Het
Ankrd22 T A 19: 34,126,782 (GRCm39) N16I probably damaging Het
Cc2d2b A G 19: 40,813,483 (GRCm39) E1321G probably damaging Het
Ccdc7b A G 8: 129,799,028 (GRCm39) E35G probably damaging Het
Chsy3 A G 18: 59,312,480 (GRCm39) I318V probably damaging Het
Clrn2 G A 5: 45,611,164 (GRCm39) W4* probably null Het
Cmip T C 8: 118,163,334 (GRCm39) I355T possibly damaging Het
Cmya5 C T 13: 93,226,800 (GRCm39) V2763M probably damaging Het
Cnnm2 T C 19: 46,865,658 (GRCm39) S749P probably damaging Het
Cyp1a1 G T 9: 57,608,002 (GRCm39) R210L possibly damaging Het
Dmxl1 G A 18: 50,068,372 (GRCm39) S2715N probably benign Het
Dync1h1 T C 12: 110,590,995 (GRCm39) L1021P probably damaging Het
Ecm2 C T 13: 49,683,818 (GRCm39) Q599* probably null Het
Galnt11 G T 5: 25,455,097 (GRCm39) K144N possibly damaging Het
Gm45861 A G 8: 28,025,279 (GRCm39) probably null Het
Kcnk18 T A 19: 59,208,390 (GRCm39) D75E probably benign Het
Kcnk2 C T 1: 188,942,187 (GRCm39) V346M probably benign Het
Klhl33 T A 14: 51,128,929 (GRCm39) M767L probably benign Het
Knl1 T C 2: 118,925,665 (GRCm39) I1898T possibly damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lamp3 T C 16: 19,518,368 (GRCm39) T290A probably benign Het
Larp1 T A 11: 57,940,849 (GRCm39) D658E probably damaging Het
Macf1 T A 4: 123,326,246 (GRCm39) I3521F probably damaging Het
Med12l T C 3: 59,174,586 (GRCm39) S1835P probably benign Het
Mef2c C A 13: 83,741,061 (GRCm39) N73K probably damaging Het
Mtmr3 T C 11: 4,439,725 (GRCm39) S572G probably benign Het
Neto2 A T 8: 86,367,185 (GRCm39) S520T probably damaging Het
Or10ak16 A G 4: 118,750,304 (GRCm39) N8S probably damaging Het
Or1o4 A G 17: 37,591,200 (GRCm39) L37S probably benign Het
Or4c110 A T 2: 88,832,281 (GRCm39) M117K probably damaging Het
P3h2 G A 16: 25,811,495 (GRCm39) R243C probably damaging Het
Pld1 T C 3: 28,132,563 (GRCm39) S584P possibly damaging Het
Prkcz T C 4: 155,353,513 (GRCm39) N278S possibly damaging Het
Radil A G 5: 142,472,672 (GRCm39) S913P probably benign Het
Retreg2 A C 1: 75,123,083 (GRCm39) Q337P probably damaging Het
Sh3gl3 A G 7: 81,956,178 (GRCm39) E305G possibly damaging Het
Shank1 G T 7: 44,001,217 (GRCm39) D979Y unknown Het
Slc35a5 A T 16: 44,964,443 (GRCm39) N263K possibly damaging Het
Slc4a7 A T 14: 14,737,452 (GRCm38) M127L probably benign Het
Slc8a2 G A 7: 15,891,282 (GRCm39) G774E probably damaging Het
Smim45 C A 15: 82,143,786 (GRCm39) H3N possibly damaging Het
Snap91 A G 9: 86,655,646 (GRCm39) S847P possibly damaging Het
Stoml1 T C 9: 58,168,177 (GRCm39) L296P probably damaging Het
Tap1 G T 17: 34,407,008 (GRCm39) G52V probably damaging Het
Tent4b T C 8: 88,977,416 (GRCm39) V363A possibly damaging Het
Tnfrsf11b T C 15: 54,117,539 (GRCm39) R239G probably benign Het
Ttn T C 2: 76,536,846 (GRCm39) Y34993C probably damaging Het
Uchl1 T C 5: 66,841,065 (GRCm39) F165L probably damaging Het
Xrcc1 C T 7: 24,246,776 (GRCm39) Q15* probably null Het
Zkscan7 C G 9: 122,717,766 (GRCm39) Q54E possibly damaging Het
Other mutations in 4931406C07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02937:4931406C07Rik APN 9 15,206,049 (GRCm39) missense probably damaging 1.00
R0116:4931406C07Rik UTSW 9 15,202,066 (GRCm39) missense probably damaging 1.00
R0826:4931406C07Rik UTSW 9 15,203,292 (GRCm39) splice site probably null
R1677:4931406C07Rik UTSW 9 15,212,660 (GRCm39) splice site probably null
R1706:4931406C07Rik UTSW 9 15,209,153 (GRCm39) missense probably damaging 1.00
R6333:4931406C07Rik UTSW 9 15,203,372 (GRCm39) missense probably benign 0.19
R6631:4931406C07Rik UTSW 9 15,203,326 (GRCm39) missense probably damaging 1.00
R7506:4931406C07Rik UTSW 9 15,209,202 (GRCm39) missense probably benign 0.15
R7643:4931406C07Rik UTSW 9 15,209,156 (GRCm39) missense probably damaging 1.00
R8438:4931406C07Rik UTSW 9 15,201,962 (GRCm39) critical splice donor site probably null
R8738:4931406C07Rik UTSW 9 15,196,214 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTTATTGGGCCTTATGAAAAG -3'
(R):5'- CACCTTTGTGTGCTGAAGAGATAAG -3'

Sequencing Primer
(F):5'- GTTTGTCAGTCCAAAGGCAATGC -3'
(R):5'- CAGCTTACGCAGTTATGTG -3'
Posted On 2018-10-18