Incidental Mutation 'R8508:4932438H23Rik'
ID 655727
Institutional Source Beutler Lab
Gene Symbol 4932438H23Rik
Ensembl Gene ENSMUSG00000039851
Gene Name RIKEN cDNA 4932438H23 gene
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R8508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 91053935-91095122 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 91055612 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 212 (Y212S)
Ref Sequence ENSEMBL: ENSMUSP00000040111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035689] [ENSMUST00000114076] [ENSMUST00000146047]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035689
AA Change: Y212S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: Y212S

DomainStartEndE-ValueType
Pfam:DUF4571 19 230 8.6e-115 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114076
AA Change: Y212S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: Y212S

DomainStartEndE-ValueType
Pfam:DUF4571 20 230 2.2e-103 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146047
SMART Domains Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851

DomainStartEndE-ValueType
Pfam:DUF4571 19 136 4.1e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A G 13: 59,743,598 L136P probably benign Het
Angpt1 T C 15: 42,512,399 N154D probably damaging Het
Angpt2 G A 8: 18,741,119 R54* probably null Het
Ankrd27 T A 7: 35,601,626 L117* probably null Het
Arhgap21 C T 2: 20,854,180 M1234I probably benign Het
Arhgef33 A G 17: 80,367,335 E387G probably damaging Het
Atp13a4 T A 16: 29,454,769 K444* probably null Het
Atp6v1a G A 16: 44,101,862 R338C probably damaging Het
Canx T C 11: 50,311,647 D44G possibly damaging Het
Ccdc141 T A 2: 77,132,244 M119L probably benign Het
Ckmt1 A C 2: 121,362,691 Q299P possibly damaging Het
Dhx16 T C 17: 35,885,920 S601P probably damaging Het
Dna2 A C 10: 62,950,894 R140S probably damaging Het
Dock1 A G 7: 134,782,409 T670A probably benign Het
Eogt A G 6: 97,143,998 S85P possibly damaging Het
Fbf1 A T 11: 116,165,881 M1K probably null Het
Fbxl12 C A 9: 20,638,864 R165L possibly damaging Het
Flnb G A 14: 7,950,394 V2571I probably damaging Het
Gm11361 A G 13: 28,257,711 I26V probably benign Het
Gm43518 A G 5: 123,938,259 E123G unknown Het
Gm8332 T G 12: 88,249,685 E139A unknown Het
Gpatch2 A G 1: 187,304,355 N374S probably benign Het
Hey1 G C 3: 8,664,776 A207G probably benign Het
Hoxa11 T C 6: 52,245,802 probably benign Het
Hydin G A 8: 110,582,018 V3979I probably benign Het
Ighe C T 12: 113,271,793 W277* probably null Het
Kmt2c G T 5: 25,314,122 T2330K probably benign Het
Krt6a T A 15: 101,692,735 K261M probably damaging Het
Lats2 A C 14: 57,722,705 S161A probably benign Het
Med13l T A 5: 118,754,321 D1936E probably benign Het
Mipol1 T C 12: 57,306,088 V71A possibly damaging Het
Mphosph8 A T 14: 56,676,546 K415* probably null Het
Npepps A G 11: 97,244,426 probably null Het
Ntn4 A T 10: 93,741,104 N545Y possibly damaging Het
Olfr1501 A T 19: 13,838,402 M257K possibly damaging Het
Olfr164 T C 16: 19,286,701 D14G probably benign Het
Olfr353 A G 2: 36,890,354 S165P probably damaging Het
Olfr738 A C 14: 50,413,675 M44L probably benign Het
Osbpl2 T A 2: 180,155,343 V358E possibly damaging Het
Pdcd11 C A 19: 47,119,806 P1204Q probably damaging Het
Pnliprp2 A C 19: 58,763,374 S184R probably damaging Het
Ppm1g G T 5: 31,204,528 R373S probably damaging Het
Rnf130 A G 11: 50,087,437 D275G probably damaging Het
Setd5 T C 6: 113,121,087 S696P probably damaging Het
Sgip1 A G 4: 102,915,071 Q219R probably benign Het
Slc1a2 T C 2: 102,736,085 probably null Het
Slc22a12 T C 19: 6,542,437 T106A probably benign Het
Slc22a14 A G 9: 119,180,585 L148P probably damaging Het
Slc2a9 A T 5: 38,382,078 F375I probably damaging Het
Sorbs3 A T 14: 70,202,947 D117E probably benign Het
Sphkap G A 1: 83,276,500 T1176I probably damaging Het
Supt16 A T 14: 52,181,589 V193D probably damaging Het
Sytl3 A G 17: 6,728,291 T362A probably damaging Het
Tctn1 T A 5: 122,246,611 Q410L probably benign Het
Trbc2 T C 6: 41,547,777 Y133H Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Vmn2r120 A G 17: 57,525,843 V112A probably benign Het
Zfp354b A T 11: 50,923,470 S209R probably benign Het
Zfp362 T C 4: 128,774,606 H391R probably damaging Het
Other mutations in 4932438H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00686:4932438H23Rik APN 16 91055601 missense possibly damaging 0.90
IGL01934:4932438H23Rik APN 16 91055865 missense probably damaging 1.00
IGL02060:4932438H23Rik APN 16 91055715 missense probably damaging 0.99
IGL02244:4932438H23Rik APN 16 91056197 missense probably benign 0.23
IGL02623:4932438H23Rik APN 16 91056144 missense probably benign 0.02
PIT4810001:4932438H23Rik UTSW 16 91055934 missense probably damaging 1.00
R0135:4932438H23Rik UTSW 16 91055627 missense probably damaging 0.99
R0932:4932438H23Rik UTSW 16 91056107 missense probably benign 0.00
R4591:4932438H23Rik UTSW 16 91056071 missense probably damaging 0.99
R6472:4932438H23Rik UTSW 16 91056003 missense probably benign 0.00
R6513:4932438H23Rik UTSW 16 91055766 missense probably benign 0.00
R7067:4932438H23Rik UTSW 16 91056033 missense probably damaging 1.00
R7472:4932438H23Rik UTSW 16 91055856 missense probably benign 0.06
R8369:4932438H23Rik UTSW 16 91055769 missense probably benign 0.07
R8469:4932438H23Rik UTSW 16 91055909 missense probably damaging 1.00
R8680:4932438H23Rik UTSW 16 91055663 missense probably damaging 1.00
R8884:4932438H23Rik UTSW 16 91055849 missense probably damaging 1.00
R9166:4932438H23Rik UTSW 16 91056158 missense possibly damaging 0.94
R9335:4932438H23Rik UTSW 16 91055942 missense probably damaging 1.00
R9390:4932438H23Rik UTSW 16 91056208 missense probably benign 0.23
Z1088:4932438H23Rik UTSW 16 91055813 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTTTGTTGTAAACGGAGGCG -3'
(R):5'- GCTTCGCATCCATACTAAGGC -3'

Sequencing Primer
(F):5'- CTTTGTTGTAAACGGAGGCGAAGAG -3'
(R):5'- TAAGGCCAGGCATCCCTC -3'
Posted On 2020-10-20