Incidental Mutation 'R7323:4930524J08Rik'
ID568273
Institutional Source Beutler Lab
Gene Symbol 4930524J08Rik
Ensembl Gene ENSMUSG00000035364
Gene NameRIKEN cDNA 4930524J08 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #R7323 (G1)
Quality Score184.009
Status Validated
Chromosome5
Chromosomal Location99979061-99979663 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 99979086 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 9 (A9E)
Ref Sequence ENSEMBL: ENSMUSP00000043949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000046721] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000171786] [ENSMUST00000172361]
Predicted Effect probably benign
Transcript: ENSMUST00000019128
SMART Domains Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 79 1.3e-16 PFAM
RRM 98 170 3.85e-25 SMART
RRM 183 255 7.76e-21 SMART
low complexity region 262 268 N/A INTRINSIC
low complexity region 270 289 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000046721
AA Change: A9E
SMART Domains Protein: ENSMUSP00000043949
Gene: ENSMUSG00000035364
AA Change: A9E

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072750
SMART Domains Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
low complexity region 7 66 N/A INTRINSIC
RRM 79 151 3.85e-25 SMART
RRM 164 236 7.76e-21 SMART
low complexity region 243 249 N/A INTRINSIC
low complexity region 251 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112939
SMART Domains Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
low complexity region 7 66 N/A INTRINSIC
RRM 79 151 3.85e-25 SMART
RRM 164 236 7.76e-21 SMART
low complexity region 243 249 N/A INTRINSIC
low complexity region 251 266 N/A INTRINSIC
low complexity region 272 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168396
SMART Domains Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 79 2.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170912
Predicted Effect probably benign
Transcript: ENSMUST00000171106
SMART Domains Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
RRM 8 80 3.85e-25 SMART
RRM 93 165 7.76e-21 SMART
low complexity region 172 178 N/A INTRINSIC
low complexity region 180 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171786
SMART Domains Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
RRM 1 72 8.44e-22 SMART
internal_repeat_1 86 107 2.75e-5 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000172361
SMART Domains Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568

DomainStartEndE-ValueType
Pfam:CBFNT 1 78 9.6e-16 PFAM
RRM 98 170 3.85e-25 SMART
RRM 183 255 7.76e-21 SMART
low complexity region 262 268 N/A INTRINSIC
low complexity region 270 285 N/A INTRINSIC
low complexity region 291 340 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030452D12Rik A T 8: 106,500,779 probably null Het
Abcb11 C A 2: 69,287,635 Q466H probably damaging Het
Adam20 A G 8: 40,795,384 D177G probably benign Het
Ampd1 A T 3: 103,085,380 Q150L probably benign Het
Angpt2 A C 8: 18,705,824 M209R probably benign Het
Aoc2 G A 11: 101,328,545 R598Q probably damaging Het
Arap1 A G 7: 101,400,211 D960G probably damaging Het
Bhlhe40 G C 6: 108,665,281 L395F probably benign Het
Cacna1i T C 15: 80,391,653 C1882R possibly damaging Het
Ccr6 A G 17: 8,256,779 N272S possibly damaging Het
Ces1f A T 8: 93,271,844 W175R probably damaging Het
Ces3a A C 8: 105,055,607 H364P possibly damaging Het
Cfap54 T C 10: 92,801,138 M3130V probably benign Het
Clca3b G A 3: 144,825,920 P708S possibly damaging Het
Cps1 A T 1: 67,157,869 T360S probably benign Het
Cramp1l A T 17: 24,982,405 M701K possibly damaging Het
Dnah1 A G 14: 31,298,707 I1235T probably damaging Het
Ergic1 A G 17: 26,641,670 E244G probably damaging Het
Fignl2 C A 15: 101,053,501 R300L unknown Het
Fry T C 5: 150,496,349 M628T Het
Fscn3 A G 6: 28,431,545 T292A possibly damaging Het
Fsip2 A T 2: 82,989,516 I5198L probably benign Het
Gm11639 T C 11: 105,030,011 L4676P probably benign Het
Gm4181 T A 14: 51,632,533 R104W probably damaging Het
Gnl1 G A 17: 35,983,413 R308H probably benign Het
Gtf2h4 G T 17: 35,669,965 L271I probably damaging Het
Helq GTTT GTT 5: 100,783,185 probably null Het
Hhatl A T 9: 121,789,586 W117R probably benign Het
Hlx A G 1: 184,730,796 F220L probably benign Het
Il31ra T C 13: 112,551,963 I27V probably damaging Het
Itga8 T G 2: 12,262,129 D165A probably damaging Het
Krt33a A C 11: 100,011,975 V341G probably benign Het
Lrrc3c A G 11: 98,599,440 M208V possibly damaging Het
Mapk8ip3 A T 17: 24,901,161 S947T probably benign Het
Muc5b A G 7: 141,858,707 I1797V unknown Het
Myh2 A T 11: 67,197,365 T1936S probably benign Het
Nr1h2 T C 7: 44,550,322 Y391C possibly damaging Het
Olfr1168 A G 2: 88,185,608 T244A possibly damaging Het
Olfr1219 A T 2: 89,074,467 I208K probably damaging Het
Olfr1509 A G 14: 52,451,213 I267V probably benign Het
Olfr355 T A 2: 36,927,974 I47F probably damaging Het
Phf3 A G 1: 30,813,130 M1064T probably benign Het
Pkd1 A G 17: 24,575,051 E1904G probably benign Het
Polrmt A G 10: 79,740,649 V491A probably benign Het
Ppm1j C A 3: 104,784,113 R306S probably damaging Het
Prkd2 T C 7: 16,847,622 F134S probably benign Het
Prpf8 C A 11: 75,491,784 Q439K probably benign Het
Prss50 A T 9: 110,863,732 I307F possibly damaging Het
Rgs20 A G 1: 4,912,312 probably null Het
Rnf144b A G 13: 47,239,782 E199G probably damaging Het
Slc12a4 C T 8: 105,955,715 G121S probably damaging Het
Slc22a26 A T 19: 7,790,894 V233E probably damaging Het
Slc27a2 T G 2: 126,553,204 L17R probably benign Het
Slc6a17 A G 3: 107,491,478 V269A probably benign Het
Srp54c T C 12: 55,257,452 V395A probably benign Het
Sspo A T 6: 48,461,647 S1550C possibly damaging Het
Tet1 A G 10: 62,880,039 probably benign Het
Themis A T 10: 28,733,501 H88L probably benign Het
Tmem63b G A 17: 45,660,847 T814M possibly damaging Het
Tnc G A 4: 63,971,232 T1679I probably damaging Het
Tnfrsf11a A G 1: 105,844,730 D581G probably damaging Het
Trim30d A C 7: 104,483,348 V244G probably benign Het
Trpv1 T C 11: 73,260,337 S784P possibly damaging Het
Tulp1 G A 17: 28,356,424 T103M probably damaging Het
Ubap2l A C 3: 90,015,406 V775G unknown Het
Vmn2r69 A C 7: 85,411,764 I204R possibly damaging Het
Vmn2r72 T A 7: 85,750,563 D426V probably benign Het
Vmn2r93 G A 17: 18,313,235 W467* probably null Het
Wbp2nl T C 15: 82,314,341 *360Q probably null Het
Xylt1 G A 7: 117,592,047 probably null Het
Zc3h6 T G 2: 128,993,411 N123K unknown Het
Zfp853 T C 5: 143,289,355 Q185R unknown Het
Other mutations in 4930524J08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1103:4930524J08Rik UTSW 5 99979121 unclassified probably benign
R5666:4930524J08Rik UTSW 5 99979209 unclassified probably benign
R5670:4930524J08Rik UTSW 5 99979209 unclassified probably benign
R5892:4930524J08Rik UTSW 5 99979265 unclassified probably benign
R7422:4930524J08Rik UTSW 5 99979209 unclassified probably benign
X0024:4930524J08Rik UTSW 5 99979295 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GCGGACCACCTAAAATGGC -3'
(R):5'- AAAGCCGCCTTTGGACAGC -3'

Sequencing Primer
(F):5'- ACCTAAAATGGCCGACGG -3'
(R):5'- AGCCTCAATGTCACCCGG -3'
Posted On2019-06-26