Incidental Mutation 'R5577:9130023H24Rik'
ID 437256
Institutional Source Beutler Lab
Gene Symbol 9130023H24Rik
Ensembl Gene ENSMUSG00000062944
Gene Name RIKEN cDNA 9130023H24 gene
Synonyms
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 127833630-127837203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127835826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 256 (Y256D)
Ref Sequence ENSEMBL: ENSMUSP00000077867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044660] [ENSMUST00000078816]
AlphaFold Q8BG98
Predicted Effect probably benign
Transcript: ENSMUST00000044660
SMART Domains Protein: ENSMUSP00000040568
Gene: ENSMUSG00000042178

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 62 104 N/A INTRINSIC
ARM 137 179 2.89e-1 SMART
ARM 180 221 3.32e-1 SMART
ARM 222 263 2.93e-2 SMART
Blast:ARM 265 306 1e-8 BLAST
low complexity region 313 338 N/A INTRINSIC
ARM 353 399 4.88e0 SMART
low complexity region 418 431 N/A INTRINSIC
low complexity region 670 690 N/A INTRINSIC
Pfam:BTB 742 854 9.6e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000078816
AA Change: Y256D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077867
Gene: ENSMUSG00000062944
AA Change: Y256D

DomainStartEndE-ValueType
ZnF_C2H2 88 110 1.89e-1 SMART
ZnF_C2H2 116 138 7.49e-5 SMART
ZnF_C2H2 144 166 1.12e-3 SMART
ZnF_C2H2 172 194 2.4e-3 SMART
ZnF_C2H2 200 222 1.95e-3 SMART
ZnF_C2H2 228 250 3.89e-3 SMART
ZnF_C2H2 256 278 1.1e-2 SMART
ZnF_C2H2 284 306 1.33e-1 SMART
ZnF_C2H2 312 334 2.53e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206509
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Ppp2r5d T C 17: 46,998,901 (GRCm39) S54G probably benign Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging Het
Other mutations in 9130023H24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:9130023H24Rik APN 7 127,836,291 (GRCm39) missense probably benign 0.01
IGL01865:9130023H24Rik APN 7 127,836,107 (GRCm39) missense probably damaging 1.00
R0319:9130023H24Rik UTSW 7 127,836,362 (GRCm39) missense probably benign
R1376:9130023H24Rik UTSW 7 127,836,182 (GRCm39) missense probably benign 0.17
R1376:9130023H24Rik UTSW 7 127,836,182 (GRCm39) missense probably benign 0.17
R2373:9130023H24Rik UTSW 7 127,836,487 (GRCm39) missense probably benign 0.13
R4751:9130023H24Rik UTSW 7 127,836,258 (GRCm39) missense probably benign 0.00
R5543:9130023H24Rik UTSW 7 127,836,353 (GRCm39) missense probably benign
R5726:9130023H24Rik UTSW 7 127,835,832 (GRCm39) missense probably damaging 1.00
R5906:9130023H24Rik UTSW 7 127,835,664 (GRCm39) missense probably benign 0.01
R6800:9130023H24Rik UTSW 7 127,836,742 (GRCm39) start gained probably benign
R7040:9130023H24Rik UTSW 7 127,835,897 (GRCm39) missense possibly damaging 0.64
R7529:9130023H24Rik UTSW 7 127,836,336 (GRCm39) nonsense probably null
R7672:9130023H24Rik UTSW 7 127,836,191 (GRCm39) missense probably damaging 1.00
R8863:9130023H24Rik UTSW 7 127,836,123 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- AAGGGCGGTTCTCCATTGTG -3'
(R):5'- ACACCGTCGTTCTCACTCAG -3'

Sequencing Primer
(F):5'- TCTCCATTGTGAGTGCGC -3'
(R):5'- TTGGTCGCAGTGCAGACCTAG -3'
Posted On 2016-10-26