Incidental Mutation 'R1345:1700001K19Rik'
ID 156470
Institutional Source Beutler Lab
Gene Symbol 1700001K19Rik
Ensembl Gene ENSMUSG00000056508
Gene Name RIKEN cDNA 1700001K19 gene
Synonyms
MMRRC Submission 039410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1345 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 110634122-110649053 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110635152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 129 (V129I)
Ref Sequence ENSEMBL: ENSMUSP00000068238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018851] [ENSMUST00000070659] [ENSMUST00000222915]
AlphaFold Q80ZT1
Predicted Effect probably benign
Transcript: ENSMUST00000018851
SMART Domains Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707

DomainStartEndE-ValueType
low complexity region 46 61 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
Pfam:DHC_N1 237 830 1.9e-145 PFAM
coiled coil region 1171 1198 N/A INTRINSIC
Pfam:DHC_N2 1317 1721 3.3e-116 PFAM
AAA 1899 2043 5.39e-2 SMART
low complexity region 2102 2116 N/A INTRINSIC
AAA 2214 2365 2.13e0 SMART
low complexity region 2394 2405 N/A INTRINSIC
AAA 2585 2735 8.6e-7 SMART
Blast:AAA 2777 2811 2e-13 BLAST
AAA 2927 3093 4.79e-5 SMART
Pfam:MT 3197 3534 1.1e-44 PFAM
Pfam:AAA_9 3554 3778 8.5e-75 PFAM
Pfam:Dynein_heavy 3919 4642 4.3e-163 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070659
AA Change: V129I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508
AA Change: V129I

DomainStartEndE-ValueType
low complexity region 196 210 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169981
Predicted Effect probably benign
Transcript: ENSMUST00000222915
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 92.3%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c18 T C 13: 4,195,213 (GRCm39) T82A possibly damaging Het
Alx1 A G 10: 102,864,353 (GRCm39) S39P possibly damaging Het
Atr A G 9: 95,802,408 (GRCm39) T1767A probably benign Het
Brf1 A T 12: 112,924,728 (GRCm39) probably null Het
Cd86 A G 16: 36,438,686 (GRCm39) probably null Het
Cdan1 A G 2: 120,549,620 (GRCm39) probably null Het
Cntln A G 4: 84,892,228 (GRCm39) D371G probably damaging Het
Cypt4 A G 9: 24,536,515 (GRCm39) T2A possibly damaging Het
Dll1 G T 17: 15,593,817 (GRCm39) Y183* probably null Het
Dnmt1 G T 9: 20,819,814 (GRCm39) P1444Q probably damaging Het
Ern2 A G 7: 121,776,993 (GRCm39) L309P probably damaging Het
Fam151a A G 4: 106,599,491 (GRCm39) K142E probably damaging Het
Fbn1 T C 2: 125,156,591 (GRCm39) E2378G probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Kdm5b A C 1: 134,558,288 (GRCm39) T1432P possibly damaging Het
Kif2a G A 13: 107,130,423 (GRCm39) S15F probably damaging Het
Lzic A G 4: 149,571,308 (GRCm39) E31G probably damaging Het
Mmp16 A G 4: 18,112,021 (GRCm39) M466V probably benign Het
Mtm1 T C X: 70,330,837 (GRCm39) V203A probably benign Het
Muc21 T A 17: 35,932,489 (GRCm39) probably benign Het
Neurl4 A G 11: 69,794,702 (GRCm39) M249V probably benign Het
Or6c76b T C 10: 129,692,759 (GRCm39) I124T probably damaging Het
Plxna2 T C 1: 194,326,794 (GRCm39) Y243H probably damaging Het
Rbm44 A G 1: 91,080,481 (GRCm39) N223S probably damaging Het
Sel1l3 G T 5: 53,357,559 (GRCm39) H144Q possibly damaging Het
Simc1 A ANNNNNNNNNNNNNNNNNNNNN 13: 54,673,060 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,907,086 (GRCm39) probably benign Het
Spata31d1d T G 13: 59,873,838 (GRCm39) K1232N possibly damaging Het
Spink5 A T 18: 44,123,749 (GRCm39) E345D possibly damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tarbp1 T C 8: 127,175,069 (GRCm39) D789G probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmem232 T C 17: 65,757,401 (GRCm39) N264S possibly damaging Het
Trim43b G C 9: 88,967,725 (GRCm39) L303V possibly damaging Het
Tulp2 C A 7: 45,168,145 (GRCm39) R298S probably benign Het
Usp42 A G 5: 143,703,088 (GRCm39) V511A probably damaging Het
Vav1 A T 17: 57,608,214 (GRCm39) T321S probably benign Het
Vmn1r169 A C 7: 23,277,247 (GRCm39) H213P probably damaging Het
Vmn1r170 C T 7: 23,305,787 (GRCm39) T63I probably benign Het
Vmn2r103 T G 17: 20,014,509 (GRCm39) W434G probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp7 T C 15: 76,774,908 (GRCm39) S317P probably damaging Het
Other mutations in 1700001K19Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:1700001K19Rik UTSW 12 110,634,884 (GRCm39) unclassified probably benign
FR4304:1700001K19Rik UTSW 12 110,634,883 (GRCm39) unclassified probably benign
FR4548:1700001K19Rik UTSW 12 110,634,886 (GRCm39) unclassified probably benign
FR4548:1700001K19Rik UTSW 12 110,634,883 (GRCm39) unclassified probably benign
FR4737:1700001K19Rik UTSW 12 110,634,882 (GRCm39) unclassified probably benign
FR4976:1700001K19Rik UTSW 12 110,634,884 (GRCm39) unclassified probably benign
FR4976:1700001K19Rik UTSW 12 110,634,881 (GRCm39) unclassified probably benign
R0266:1700001K19Rik UTSW 12 110,635,188 (GRCm39) missense possibly damaging 0.59
R1859:1700001K19Rik UTSW 12 110,637,268 (GRCm39) start gained probably benign
R7020:1700001K19Rik UTSW 12 110,634,975 (GRCm39) missense probably damaging 1.00
R7225:1700001K19Rik UTSW 12 110,637,299 (GRCm39) splice site probably benign
R7311:1700001K19Rik UTSW 12 110,635,184 (GRCm39) missense probably benign
R8410:1700001K19Rik UTSW 12 110,635,145 (GRCm39) missense probably benign 0.21
R9001:1700001K19Rik UTSW 12 110,637,176 (GRCm39) missense probably damaging 1.00
RF022:1700001K19Rik UTSW 12 110,634,877 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTCTTGGAAAGCGACAGCCTG -3'
(R):5'- AGTTACCATAGCCATCGTGCCCAC -3'

Sequencing Primer
(F):5'- TGTCACTCCCGAGTCTGG -3'
(R):5'- ACCACCTCCTGGGTGATAG -3'
Posted On 2014-02-11