Incidental Mutation 'R3195:9130401M01Rik'
ID 267614
Institutional Source Beutler Lab
Gene Symbol 9130401M01Rik
Ensembl Gene ENSMUSG00000101892
Gene Name RIKEN cDNA 9130401M01 gene
Synonyms
MMRRC Submission 040616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R3195 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57885666-57897690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57892132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 158 (N158K)
Ref Sequence ENSEMBL: ENSMUSP00000134752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100655] [ENSMUST00000176935] [ENSMUST00000177176] [ENSMUST00000185553]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000100655
AA Change: N222K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098220
Gene: ENSMUSG00000101892
AA Change: N222K

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
SCOP:d1elwa_ 49 174 2e-7 SMART
low complexity region 207 220 N/A INTRINSIC
low complexity region 241 278 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176935
AA Change: N158K

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134752
Gene: ENSMUSG00000022362
AA Change: N158K

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177176
Predicted Effect probably benign
Transcript: ENSMUST00000185553
SMART Domains Protein: ENSMUSP00000140805
Gene: ENSMUSG00000101892

DomainStartEndE-ValueType
low complexity region 18 30 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187062
Predicted Effect probably benign
Transcript: ENSMUST00000189159
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat1 G C 4: 49,447,457 (GRCm39) P357A probably damaging Het
Akap6 T A 12: 53,119,240 (GRCm39) C1102* probably null Het
Calb2 C T 8: 110,883,635 (GRCm39) probably benign Het
Cdh15 G A 8: 123,583,374 (GRCm39) R59H probably benign Het
Csgalnact1 TGG TG 8: 68,913,737 (GRCm39) probably null Het
Dmtf1 A G 5: 9,182,454 (GRCm39) probably benign Het
Focad A G 4: 88,325,588 (GRCm39) E151G possibly damaging Het
Frem1 A G 4: 82,932,351 (GRCm39) F117L probably damaging Het
Gab2 A G 7: 96,921,236 (GRCm39) T204A probably benign Het
Gapdh T C 6: 125,139,583 (GRCm39) N229S possibly damaging Het
Gm3604 A T 13: 62,517,868 (GRCm39) C163* probably null Het
Iqub G C 6: 24,462,036 (GRCm39) probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
L1td1 A G 4: 98,625,755 (GRCm39) E650G possibly damaging Het
Lilra5 G A 7: 4,241,756 (GRCm39) G185D probably damaging Het
Lpin1 A G 12: 16,615,584 (GRCm39) S323P possibly damaging Het
Mmp7 C A 9: 7,692,219 (GRCm39) S31R probably benign Het
Myo1h G A 5: 114,466,801 (GRCm39) C283Y probably benign Het
Nfkbiz A G 16: 55,639,991 (GRCm39) L122P probably damaging Het
Or10c1 A G 17: 37,522,427 (GRCm39) F106L possibly damaging Het
Or1e35 T C 11: 73,797,484 (GRCm39) Y278C possibly damaging Het
Paqr8 A G 1: 21,005,257 (GRCm39) E137G probably damaging Het
Pde4b G A 4: 102,456,840 (GRCm39) A429T probably damaging Het
Pes1 T C 11: 3,925,736 (GRCm39) probably benign Het
Reln A T 5: 22,245,418 (GRCm39) I730N possibly damaging Het
Sh3rf1 C T 8: 61,679,321 (GRCm39) P121L probably benign Het
Skint9 T G 4: 112,248,148 (GRCm39) I199L probably benign Het
Slc13a4 C T 6: 35,245,861 (GRCm39) V595M probably damaging Het
Smarca2 A G 19: 26,661,222 (GRCm39) E939G possibly damaging Het
Spg11 A G 2: 121,913,879 (GRCm39) probably null Het
Trpm1 T A 7: 63,849,061 (GRCm39) Y102* probably null Het
Usp42 A G 5: 143,702,954 (GRCm39) S556P probably benign Het
Zfp957 A G 14: 79,450,332 (GRCm39) V489A probably damaging Het
Other mutations in 9130401M01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0316:9130401M01Rik UTSW 15 57,888,765 (GRCm39) missense probably damaging 0.96
R0318:9130401M01Rik UTSW 15 57,892,370 (GRCm39) missense probably damaging 0.96
R0322:9130401M01Rik UTSW 15 57,888,768 (GRCm39) missense possibly damaging 0.90
R0365:9130401M01Rik UTSW 15 57,892,088 (GRCm39) missense probably benign 0.00
R1019:9130401M01Rik UTSW 15 57,885,823 (GRCm39) missense possibly damaging 0.47
R1432:9130401M01Rik UTSW 15 57,892,256 (GRCm39) missense probably damaging 1.00
R3196:9130401M01Rik UTSW 15 57,892,132 (GRCm39) missense probably benign 0.31
R6439:9130401M01Rik UTSW 15 57,895,444 (GRCm39) missense probably null 0.92
R6953:9130401M01Rik UTSW 15 57,892,223 (GRCm39) missense probably damaging 0.99
R7724:9130401M01Rik UTSW 15 57,885,857 (GRCm39) missense probably benign 0.03
R7739:9130401M01Rik UTSW 15 57,885,875 (GRCm39) missense probably benign 0.24
R8879:9130401M01Rik UTSW 15 57,885,905 (GRCm39) missense probably damaging 1.00
R9045:9130401M01Rik UTSW 15 57,892,130 (GRCm39) missense possibly damaging 0.76
R9257:9130401M01Rik UTSW 15 57,892,414 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CCACGTACAGGATTCCTCCATC -3'
(R):5'- TGCCTGCACAAGCTGATTG -3'

Sequencing Primer
(F):5'- GTACAGGATTCCTCCATCCCTAC -3'
(R):5'- GCTGATTGCTTTGCACCCG -3'
Posted On 2015-02-18