Incidental Mutation 'R1055:4930578I06Rik'
ID 94304
Institutional Source Beutler Lab
Gene Symbol 4930578I06Rik
Ensembl Gene ENSMUSG00000021961
Gene Name RIKEN cDNA 4930578I06 gene
Synonyms
MMRRC Submission 039145-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R1055 (G1)
Quality Score 198
Status Validated
Chromosome 14
Chromosomal Location 64208570-64225229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64210724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 168 (V168A)
Ref Sequence ENSEMBL: ENSMUSP00000152904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022532] [ENSMUST00000224600]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000022532
AA Change: V168A

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022532
Gene: ENSMUSG00000021961
AA Change: V168A

DomainStartEndE-ValueType
Pfam:CLAMP 28 137 1.6e-11 PFAM
low complexity region 260 270 N/A INTRINSIC
low complexity region 284 298 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000224600
AA Change: V168A

PolyPhen 2 Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225544
Meta Mutation Damage Score 0.1235 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.3%
  • 20x: 87.5%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C A 19: 31,909,919 (GRCm39) T237N probably benign Het
Actl10 A T 2: 154,394,588 (GRCm39) Q180L probably benign Het
Adcy1 T C 11: 7,059,075 (GRCm39) L327P probably damaging Het
Adcy7 T C 8: 89,044,685 (GRCm39) probably benign Het
Ahctf1 G A 1: 179,591,051 (GRCm39) T1243I possibly damaging Het
Akap6 C T 12: 52,927,455 (GRCm39) Q122* probably null Het
Apob G A 12: 8,044,963 (GRCm39) G861D probably damaging Het
Arhgef11 A C 3: 87,624,425 (GRCm39) T539P probably benign Het
Cd244a T A 1: 171,404,844 (GRCm39) V232E probably damaging Het
Chia1 A C 3: 106,038,199 (GRCm39) D365A probably damaging Het
Clpsl2 C T 17: 28,768,500 (GRCm39) Q5* probably null Het
Clrn1 T A 3: 58,772,531 (GRCm39) I117F probably benign Het
Csmd3 A G 15: 47,744,933 (GRCm39) L1354P probably damaging Het
Csn2 G A 5: 87,842,596 (GRCm39) P144S possibly damaging Het
Dcdc2a T A 13: 25,286,593 (GRCm39) M172K probably damaging Het
Dnah9 A T 11: 66,050,837 (GRCm39) W152R probably damaging Het
Dnmt3a T A 12: 3,922,864 (GRCm39) S82T probably benign Het
Ebf1 A G 11: 44,523,602 (GRCm39) K146E probably damaging Het
Gfpt2 A C 11: 49,718,038 (GRCm39) R504S probably damaging Het
Gpank1 T A 17: 35,343,284 (GRCm39) S255T probably damaging Het
Greb1 T C 12: 16,732,252 (GRCm39) M1570V probably damaging Het
Gtf2i A T 5: 134,292,478 (GRCm39) I403K probably damaging Het
Hoxc11 T A 15: 102,863,270 (GRCm39) C104S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ilrun T C 17: 27,986,910 (GRCm39) N272S probably damaging Het
Khdrbs2 A T 1: 32,683,238 (GRCm39) probably benign Het
Lix1l G T 3: 96,528,626 (GRCm39) G200V probably damaging Het
Lrrc23 T C 6: 124,755,114 (GRCm39) N141S probably damaging Het
Marchf11 A T 15: 26,309,748 (GRCm39) D134V probably damaging Het
Myo9a A T 9: 59,762,653 (GRCm39) T795S probably benign Het
Nhsl1 T A 10: 18,401,223 (GRCm39) D782E probably benign Het
Nptxr T C 15: 79,674,456 (GRCm39) probably benign Het
Nrp1 A G 8: 129,195,079 (GRCm39) M512V possibly damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or12e7 ATTGCTACTC A 2: 87,287,781 (GRCm39) probably benign Het
Or5b3 G A 19: 13,388,754 (GRCm39) A274T probably benign Het
Pard3 T C 8: 128,104,761 (GRCm39) F267S probably benign Het
Pomt2 G A 12: 87,194,254 (GRCm39) T50M possibly damaging Het
Qsox2 A G 2: 26,104,137 (GRCm39) Y298H probably damaging Het
Rabgap1 A G 2: 37,382,080 (GRCm39) K450E possibly damaging Het
Rpa1 A T 11: 75,193,558 (GRCm39) V591D probably damaging Het
Sall3 A C 18: 81,013,007 (GRCm39) M1143R probably benign Het
Scgb1b19 G T 7: 32,986,768 (GRCm39) A13S unknown Het
Scn1a T C 2: 66,168,340 (GRCm39) T89A probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Sdr42e1 T G 8: 118,390,323 (GRCm39) N106T probably damaging Het
Shpk A T 11: 73,105,945 (GRCm39) M266L probably benign Het
Slc34a1 G T 13: 55,550,846 (GRCm39) R139L probably benign Het
Smbd1 C A 16: 32,627,088 (GRCm39) D67Y probably damaging Het
Srd5a3 A G 5: 76,301,485 (GRCm39) N238S probably benign Het
Tmprss2 T C 16: 97,377,462 (GRCm39) N212D probably damaging Het
Uap1 G T 1: 169,984,480 (GRCm39) probably benign Het
Ugt1a6a A G 1: 88,066,736 (GRCm39) M181V probably benign Het
Vmn2r32 C T 7: 7,477,326 (GRCm39) W355* probably null Het
Vmn2r86 T A 10: 130,282,226 (GRCm39) S797C probably damaging Het
Wiz A G 17: 32,606,616 (GRCm39) S40P probably damaging Het
Zfand6 A G 7: 84,265,181 (GRCm39) probably benign Het
Zfp280d G A 9: 72,236,449 (GRCm39) probably null Het
Other mutations in 4930578I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:4930578I06Rik APN 14 64,208,881 (GRCm39) missense probably benign 0.14
R0372:4930578I06Rik UTSW 14 64,210,931 (GRCm39) missense probably damaging 0.98
R0610:4930578I06Rik UTSW 14 64,223,714 (GRCm39) nonsense probably null
R1671:4930578I06Rik UTSW 14 64,210,637 (GRCm39) missense probably benign 0.41
R1888:4930578I06Rik UTSW 14 64,223,632 (GRCm39) missense probably damaging 0.99
R1888:4930578I06Rik UTSW 14 64,223,632 (GRCm39) missense probably damaging 0.99
R2327:4930578I06Rik UTSW 14 64,208,569 (GRCm39) splice site probably null
R4243:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R4256:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R4257:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R4354:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R4863:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R4864:4930578I06Rik UTSW 14 64,210,658 (GRCm39) missense probably benign
R5786:4930578I06Rik UTSW 14 64,210,691 (GRCm39) missense probably damaging 1.00
R6240:4930578I06Rik UTSW 14 64,223,701 (GRCm39) missense probably damaging 1.00
R6849:4930578I06Rik UTSW 14 64,223,688 (GRCm39) missense probably benign 0.12
R6849:4930578I06Rik UTSW 14 64,223,687 (GRCm39) missense probably damaging 1.00
R8260:4930578I06Rik UTSW 14 64,223,633 (GRCm39) missense probably benign 0.01
R8305:4930578I06Rik UTSW 14 64,208,844 (GRCm39) missense possibly damaging 0.75
R8336:4930578I06Rik UTSW 14 64,223,545 (GRCm39) missense probably benign
R8939:4930578I06Rik UTSW 14 64,225,162 (GRCm39) missense probably benign 0.26
R9407:4930578I06Rik UTSW 14 64,223,629 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGTCTGTGGGAAATGCTAGATGCC -3'
(R):5'- ACTGGGGAAGAAGCTCCGAGATTAC -3'

Sequencing Primer
(F):5'- GTCTTCACTACCAGTGCAGATAG -3'
(R):5'- CCGAGATTACCAGAAGCAGTTTAATG -3'
Posted On 2014-01-05