Incidental Mutation 'R9593:A130010J15Rik'
ID 723077
Institutional Source Beutler Lab
Gene Symbol A130010J15Rik
Ensembl Gene ENSMUSG00000079144
Gene Name RIKEN cDNA A130010J15 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R9593 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 192855777-192860145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 192857087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 146 (D146E)
Ref Sequence ENSEMBL: ENSMUSP00000106455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043550] [ENSMUST00000076521] [ENSMUST00000110831] [ENSMUST00000160077] [ENSMUST00000160822] [ENSMUST00000161235] [ENSMUST00000178744] [ENSMUST00000191613] [ENSMUST00000192020] [ENSMUST00000192189] [ENSMUST00000193307] [ENSMUST00000194278]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043550
SMART Domains Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076521
SMART Domains Protein: ENSMUSP00000075839
Gene: ENSMUSG00000026638

DomainStartEndE-ValueType
IRF 3 116 1.98e-59 SMART
low complexity region 135 151 N/A INTRINSIC
Blast:IRF 158 189 6e-8 BLAST
IRF-3 223 407 3.92e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110831
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000106455
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160077
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141934
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 163 6.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160302
Predicted Effect probably benign
Transcript: ENSMUST00000160822
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124546
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 15 263 2.7e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161235
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124191
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178744
AA Change: D146E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000136653
Gene: ENSMUSG00000079144
AA Change: D146E

DomainStartEndE-ValueType
Pfam:DUF4504 13 263 1.4e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191613
SMART Domains Protein: ENSMUSP00000141799
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 70 7.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192020
SMART Domains Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
coiled coil region 279 486 N/A INTRINSIC
transmembrane domain 487 506 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192189
Predicted Effect probably benign
Transcript: ENSMUST00000193307
SMART Domains Protein: ENSMUSP00000142273
Gene: ENSMUSG00000079144

DomainStartEndE-ValueType
Pfam:DUF4504 13 84 3.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194278
SMART Domains Protein: ENSMUSP00000141661
Gene: ENSMUSG00000037318

DomainStartEndE-ValueType
low complexity region 23 44 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca C T 11: 84,271,339 (GRCm39) Q2058* probably null Het
Adam39 T A 8: 41,279,744 (GRCm39) C712S possibly damaging Het
Aipl1 T C 11: 71,921,161 (GRCm39) E219G probably benign Het
Ankrd24 A G 10: 81,475,898 (GRCm39) R301G unknown Het
Arhgef17 A G 7: 100,532,009 (GRCm39) F272L probably damaging Het
B3galt2 T A 1: 143,522,604 (GRCm39) Y247N probably damaging Het
Bltp1 T C 3: 37,002,090 (GRCm39) V1345A probably damaging Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cat T C 2: 103,285,433 (GRCm39) E503G probably benign Het
Cemip2 T C 19: 21,803,453 (GRCm39) S829P probably damaging Het
Coro1b T A 19: 4,199,497 (GRCm39) V52E probably damaging Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Dip2c T A 13: 9,704,683 (GRCm39) M1344K possibly damaging Het
Dnah5 A G 15: 28,236,774 (GRCm39) I367V probably benign Het
Dock2 T C 11: 34,178,607 (GRCm39) T1807A probably benign Het
Dusp10 T A 1: 183,806,643 (GRCm39) F459I probably damaging Het
Elac1 A T 18: 73,872,089 (GRCm39) L302Q probably benign Het
Entrep3 T A 3: 89,091,199 (GRCm39) S57T probably benign Het
Fdx2 A T 9: 20,979,097 (GRCm39) Y165N probably damaging Het
Gabra2 C T 5: 71,165,353 (GRCm39) V206I possibly damaging Het
Gabrg1 T C 5: 70,939,808 (GRCm39) E108G probably damaging Het
Gm29394 A G 15: 57,932,722 (GRCm39) L5P probably benign Het
Gnb1l C T 16: 18,362,914 (GRCm39) P101S probably benign Het
Hectd4 C A 5: 121,424,844 (GRCm39) S749* probably null Het
Hmcn2 A G 2: 31,244,742 (GRCm39) Y733C probably damaging Het
Inafm1 G A 7: 16,007,059 (GRCm39) L53F probably damaging Het
Iqgap3 G A 3: 88,011,657 (GRCm39) R814H probably damaging Het
Map3k19 A G 1: 127,778,163 (GRCm39) C21R probably benign Het
Maz A G 7: 126,624,924 (GRCm39) F199L probably damaging Het
Mis18bp1 A G 12: 65,187,628 (GRCm39) I825T probably damaging Het
Mpp3 T A 11: 101,907,506 (GRCm39) T211S possibly damaging Het
Mtrf1 T C 14: 79,656,664 (GRCm39) Y389H probably damaging Het
Myo3b G A 2: 70,075,648 (GRCm39) G579R probably benign Het
Nlrp4e T C 7: 23,020,197 (GRCm39) V228A probably benign Het
Npepps T A 11: 97,149,179 (GRCm39) probably null Het
Ntng1 A G 3: 109,842,224 (GRCm39) L183P probably damaging Het
Or8c16 A G 9: 38,130,868 (GRCm39) T247A probably benign Het
Pcdha4 A C 18: 37,086,740 (GRCm39) I308L probably benign Het
Pear1 G T 3: 87,658,480 (GRCm39) Q964K probably benign Het
Plekhg2 A T 7: 28,059,710 (GRCm39) D1182E possibly damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Ptpn13 T A 5: 103,674,998 (GRCm39) D658E possibly damaging Het
Ptprq T C 10: 107,524,254 (GRCm39) Y493C possibly damaging Het
Rnd1 A G 15: 98,570,526 (GRCm39) W107R probably damaging Het
Scn5a G A 9: 119,315,839 (GRCm39) T1623M probably damaging Het
Sec23b T C 2: 144,410,564 (GRCm39) I288T probably benign Het
Slfn14 T A 11: 83,174,733 (GRCm39) H86L probably benign Het
Smchd1 G A 17: 71,701,828 (GRCm39) H1055Y probably damaging Het
Sox13 G A 1: 133,316,214 (GRCm39) P243S probably damaging Het
St3gal6 C A 16: 58,305,136 (GRCm39) E109* probably null Het
Traf4 T C 11: 78,056,253 (GRCm39) D5G possibly damaging Het
Trank1 G T 9: 111,191,365 (GRCm39) C458F probably benign Het
Ttc41 T C 10: 86,549,049 (GRCm39) F81S probably benign Het
Tulp1 C T 17: 28,572,802 (GRCm39) W451* probably null Het
Tyms T C 5: 30,269,110 (GRCm39) I171V Het
Vmn2r115 T A 17: 23,578,184 (GRCm39) N552K probably damaging Het
Zfp710 T A 7: 79,730,909 (GRCm39) S29T possibly damaging Het
Other mutations in A130010J15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:A130010J15Rik APN 1 192,857,087 (GRCm39) missense probably benign 0.13
IGL00594:A130010J15Rik APN 1 192,857,109 (GRCm39) missense probably benign 0.00
R2094:A130010J15Rik UTSW 1 192,857,154 (GRCm39) missense probably benign 0.08
R4754:A130010J15Rik UTSW 1 192,856,837 (GRCm39) missense probably damaging 1.00
R4824:A130010J15Rik UTSW 1 192,856,965 (GRCm39) missense probably benign 0.01
R6195:A130010J15Rik UTSW 1 192,857,142 (GRCm39) splice site probably null
R6393:A130010J15Rik UTSW 1 192,856,690 (GRCm39) missense possibly damaging 0.82
R6551:A130010J15Rik UTSW 1 192,856,831 (GRCm39) missense probably damaging 0.96
R6809:A130010J15Rik UTSW 1 192,857,089 (GRCm39) missense possibly damaging 0.62
R8867:A130010J15Rik UTSW 1 192,857,406 (GRCm39) missense probably damaging 1.00
R9685:A130010J15Rik UTSW 1 192,857,065 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGTCCTGAGTATGCCTGTCAG -3'
(R):5'- TGGGAACAAACTCTCTGGAAC -3'

Sequencing Primer
(F):5'- CTGTCAGCATTTGGAACAGACACTG -3'
(R):5'- TCTCTGGAACACTAAAGGAGTAC -3'
Posted On 2022-08-09