Incidental Mutation 'R3861:5730507C01Rik'
ID276365
Institutional Source Beutler Lab
Gene Symbol 5730507C01Rik
Ensembl Gene ENSMUSG00000073197
Gene NameRIKEN cDNA 5730507C01 gene
Synonyms
MMRRC Submission 040788-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.157) question?
Stock #R3861 (G1)
Quality Score100
Status Not validated
Chromosome12
Chromosomal Location18514510-18535254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 18533410 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 157 (S157N)
Ref Sequence ENSEMBL: ENSMUSP00000137525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]
Predicted Effect probably benign
Transcript: ENSMUST00000063216
AA Change: S133N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: S133N

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 45 107 1.74e-14 SMART
ZnF_C2H2 144 166 5.54e1 SMART
ZnF_C2H2 172 194 8.75e0 SMART
ZnF_C2H2 200 222 2.43e-4 SMART
ZnF_C2H2 228 250 2.02e-1 SMART
ZnF_C2H2 256 278 1.4e-4 SMART
ZnF_C2H2 284 306 1.84e-4 SMART
ZnF_C2H2 312 334 6.88e-4 SMART
ZnF_C2H2 340 362 9.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177778
AA Change: S157N

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: S157N

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
KRAB 69 131 1.74e-14 SMART
ZnF_C2H2 168 190 5.54e1 SMART
ZnF_C2H2 196 218 8.75e0 SMART
ZnF_C2H2 224 246 2.43e-4 SMART
ZnF_C2H2 252 274 2.02e-1 SMART
ZnF_C2H2 280 302 1.4e-4 SMART
ZnF_C2H2 308 330 1.84e-4 SMART
ZnF_C2H2 336 358 6.88e-4 SMART
ZnF_C2H2 364 386 9.58e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 11,588,554 probably benign Het
Akip1 C T 7: 109,707,406 probably benign Het
Anxa5 T C 3: 36,450,658 T252A probably benign Het
Arhgef10l A G 4: 140,515,487 F1072L possibly damaging Het
Armc1 C T 3: 19,135,032 R186Q probably damaging Het
Atxn2l A T 7: 126,501,951 probably null Het
Cadps2 A G 6: 23,355,861 I849T probably damaging Het
Ccdc28a T A 10: 18,224,995 Q28L probably damaging Het
Cdh4 T A 2: 179,874,097 V356D probably damaging Het
Chd8 T A 14: 52,237,121 Q151L probably benign Het
Chgb T A 2: 132,793,144 H335Q probably damaging Het
Col19a1 G A 1: 24,326,017 P506S probably damaging Het
Col5a2 T C 1: 45,380,237 T1228A probably damaging Het
Cpxm2 A G 7: 132,054,919 V538A probably benign Het
Cramp1l A T 17: 24,997,614 probably benign Het
Cttnbp2 T C 6: 18,423,833 R831G probably benign Het
Cyp4f17 A G 17: 32,528,104 D436G probably damaging Het
Dcaf6 A T 1: 165,429,269 N48K probably damaging Het
Ddx50 C A 10: 62,642,946 V154L possibly damaging Het
Dnah9 T C 11: 66,052,994 probably benign Het
Dnm3 T A 1: 162,311,405 I395L possibly damaging Het
Elp2 C T 18: 24,606,920 R68C probably benign Het
Frg1 A T 8: 41,407,783 probably null Het
Fsip2 G T 2: 82,984,776 D3618Y probably damaging Het
Gabra2 T C 5: 70,973,543 D314G probably damaging Het
Gm906 T C 13: 50,246,851 K480E probably benign Het
Gramd1a A C 7: 31,135,940 D407E possibly damaging Het
Grm5 T A 7: 88,129,994 S881T possibly damaging Het
Ikbkb T A 8: 22,678,836 I216F possibly damaging Het
Kif3a T C 11: 53,597,978 V634A probably benign Het
Ltbp1 A T 17: 75,359,338 Y1342F possibly damaging Het
Mia2 G T 12: 59,109,021 V508L probably benign Het
Mtus2 C T 5: 148,313,413 T155M probably damaging Het
Napepld A T 5: 21,683,289 V54E probably benign Het
Nlrc4 T C 17: 74,445,621 E589G probably benign Het
Nphp3 G T 9: 104,039,326 probably benign Het
Nr2f1 T A 13: 78,195,675 R10* probably null Het
Nsfl1c C A 2: 151,510,904 probably null Het
Olfr304 A G 7: 86,386,123 V179A possibly damaging Het
Pcdhgc3 A G 18: 37,808,528 T661A probably damaging Het
Pdzrn3 A G 6: 101,172,371 V332A possibly damaging Het
Pkhd1 C T 1: 20,200,927 C3134Y probably damaging Het
Ptprz1 T C 6: 23,036,895 V1131A probably damaging Het
Rccd1 T C 7: 80,320,368 E167G probably benign Het
Ror1 T C 4: 100,407,923 I198T possibly damaging Het
Rpl31-ps17 C T 12: 54,701,612 noncoding transcript Het
Scly C T 1: 91,302,851 probably benign Het
Scn4a T C 11: 106,326,124 probably benign Het
Sh3rf2 T C 18: 42,153,319 S594P probably damaging Het
Slc19a1 G A 10: 77,041,975 V115M possibly damaging Het
Slc26a6 A T 9: 108,854,196 probably benign Het
Smg7 C T 1: 152,852,598 R439K probably null Het
Syne2 A G 12: 75,966,479 R2815G probably damaging Het
Tmem55a A G 4: 14,902,506 N169S probably damaging Het
Trim75 G A 8: 64,982,827 R324C probably damaging Het
Ucp3 T C 7: 100,480,251 S98P probably benign Het
Zscan29 G C 2: 121,160,731 R859G probably benign Het
Other mutations in 5730507C01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:5730507C01Rik APN 12 18533374 missense possibly damaging 0.91
R0419:5730507C01Rik UTSW 12 18533423 missense possibly damaging 0.53
R1662:5730507C01Rik UTSW 12 18531966 missense possibly damaging 0.53
R1851:5730507C01Rik UTSW 12 18533686 missense possibly damaging 0.95
R1902:5730507C01Rik UTSW 12 18534003 nonsense probably null
R2876:5730507C01Rik UTSW 12 18533643 missense possibly damaging 0.60
R3934:5730507C01Rik UTSW 12 18534081 missense possibly damaging 0.95
R5774:5730507C01Rik UTSW 12 18531667 missense probably damaging 1.00
R6259:5730507C01Rik UTSW 12 18534119 missense probably benign 0.44
R7647:5730507C01Rik UTSW 12 18514802 missense possibly damaging 0.86
R8053:5730507C01Rik UTSW 12 18533727 nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAAAGGATGTTATGAACGTCAGCCA -3'
(R):5'- TCATAGGGTTTCTCTCCAGTATGT -3'

Sequencing Primer
(F):5'- GTTATGAACGTCAGCCAGGTAATAAC -3'
(R):5'- ACTTCCCAGTTGTGCAAAGG -3'
Posted On2015-04-06