Incidental Mutation 'R1807:D7Ertd443e'
ID 203536
Institutional Source Beutler Lab
Gene Symbol D7Ertd443e
Ensembl Gene ENSMUSG00000030994
Gene Name DNA segment, Chr 7, ERATO Doi 443, expressed
Synonyms 4933400E14Rik
MMRRC Submission 039836-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1807 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 133867508-134102889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133895034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 552 (E552V)
Ref Sequence ENSEMBL: ENSMUSP00000091539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000106129] [ENSMUST00000172947] [ENSMUST00000174700]
AlphaFold D2J0Y4
Predicted Effect probably null
Transcript: ENSMUST00000094002
AA Change: E552V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: E552V

DomainStartEndE-ValueType
low complexity region 179 192 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 279 292 N/A INTRINSIC
low complexity region 396 410 N/A INTRINSIC
low complexity region 478 494 N/A INTRINSIC
Pfam:ALMS_motif 511 644 3.7e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106129
AA Change: E193V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101735
Gene: ENSMUSG00000030994
AA Change: E193V

DomainStartEndE-ValueType
low complexity region 37 51 N/A INTRINSIC
low complexity region 119 135 N/A INTRINSIC
Pfam:ALMS_motif 152 285 7.4e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000172947
AA Change: E599V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: E599V

DomainStartEndE-ValueType
low complexity region 226 239 N/A INTRINSIC
low complexity region 285 296 N/A INTRINSIC
low complexity region 326 339 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 525 541 N/A INTRINSIC
Pfam:ALMS_motif 559 689 1.2e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174700
SMART Domains Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994

DomainStartEndE-ValueType
Pfam:ALMS_motif 25 98 2.3e-12 PFAM
Meta Mutation Damage Score 0.6578 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.7%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C T 17: 36,205,961 (GRCm39) W27* probably null Het
4933430I17Rik T A 4: 62,460,993 (GRCm39) Y289* probably null Het
A3galt2 A G 4: 128,661,394 (GRCm39) I348V probably benign Het
Abca13 A G 11: 9,241,755 (GRCm39) Y1206C probably damaging Het
Adar T C 3: 89,642,172 (GRCm39) S18P probably benign Het
Akr1cl T C 1: 65,061,106 (GRCm39) D139G possibly damaging Het
Aldh1b1 A G 4: 45,802,873 (GRCm39) Y137C possibly damaging Het
Arsa T C 15: 89,359,525 (GRCm39) M86V possibly damaging Het
Atg9b C A 5: 24,592,055 (GRCm39) R648L probably damaging Het
Atrn A G 2: 130,824,692 (GRCm39) N1042S possibly damaging Het
Ccdc6 T A 10: 70,010,989 (GRCm39) D325E possibly damaging Het
Cdk12 T C 11: 98,101,203 (GRCm39) S354P unknown Het
Chst3 T A 10: 60,022,130 (GRCm39) Y239F probably benign Het
Cilp2 C A 8: 70,334,844 (GRCm39) R718L probably damaging Het
Col27a1 A G 4: 63,249,586 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,616,137 (GRCm39) N266S probably benign Het
Ctnnd2 T C 15: 30,620,017 (GRCm39) V123A probably damaging Het
Cyria G A 12: 12,411,505 (GRCm39) R123Q probably benign Het
Dcst1 T A 3: 89,260,848 (GRCm39) H516L probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Drd2 C T 9: 49,316,367 (GRCm39) L376F probably damaging Het
Edn1 A G 13: 42,460,270 (GRCm39) N175S probably damaging Het
Eipr1 G T 12: 28,816,838 (GRCm39) G65V probably damaging Het
Epha4 G A 1: 77,351,541 (GRCm39) P905S probably benign Het
Erbb2 T C 11: 98,319,680 (GRCm39) Y591H probably damaging Het
Fam135b G A 15: 71,335,761 (GRCm39) R478C probably benign Het
Fat2 T C 11: 55,180,085 (GRCm39) T1419A probably damaging Het
Flnb C T 14: 7,934,645 (GRCm38) T2239I probably benign Het
Gm7713 T C 15: 59,866,320 (GRCm39) noncoding transcript Het
Hsf5 C T 11: 87,548,168 (GRCm39) P617L probably benign Het
Kcnk12 C A 17: 88,053,468 (GRCm39) R398L probably benign Het
Kif21b T A 1: 136,075,531 (GRCm39) N219K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klra5 A T 6: 129,876,383 (GRCm39) F141L probably benign Het
Lmtk3 C T 7: 45,442,702 (GRCm39) P462S probably benign Het
Mast2 A G 4: 116,167,938 (GRCm39) probably benign Het
Me1 T A 9: 86,532,932 (GRCm39) T197S probably damaging Het
Msr1 T A 8: 40,072,948 (GRCm39) Q267L probably benign Het
Nfic T C 10: 81,240,819 (GRCm39) T328A probably benign Het
Nphp3 G A 9: 103,897,940 (GRCm39) D390N probably benign Het
Nr2e1 T A 10: 42,458,905 (GRCm39) probably null Het
Nt5el A T 13: 105,218,744 (GRCm39) Q26L probably benign Het
Or52e19b T A 7: 103,032,790 (GRCm39) N140Y probably benign Het
Or5t9 T A 2: 86,659,445 (GRCm39) F116L probably benign Het
Pard6b T C 2: 167,929,332 (GRCm39) L46P probably damaging Het
Prkaa1 T A 15: 5,173,436 (GRCm39) L20Q probably damaging Het
Rapgefl1 T C 11: 98,736,815 (GRCm39) probably null Het
Recql5 T C 11: 115,785,941 (GRCm39) K611E possibly damaging Het
Rexo1 A T 10: 80,378,413 (GRCm39) I1180N possibly damaging Het
Rnf26rt A G 6: 76,474,397 (GRCm39) V73A probably benign Het
Rph3a T C 5: 121,083,456 (GRCm39) N605D probably damaging Het
Sema6a A G 18: 47,409,491 (GRCm39) V592A possibly damaging Het
Skint11 A T 4: 114,051,893 (GRCm39) R80S probably benign Het
Smpdl3a C A 10: 57,677,118 (GRCm39) P72H probably damaging Het
Sobp T G 10: 43,036,822 (GRCm39) M39L possibly damaging Het
Sparcl1 T A 5: 104,233,627 (GRCm39) Y574F probably damaging Het
Spns3 C T 11: 72,429,166 (GRCm39) W206* probably null Het
Srf A G 17: 46,864,685 (GRCm39) V190A possibly damaging Het
Stag1 T G 9: 100,790,719 (GRCm39) H742Q probably benign Het
Strn3 A T 12: 51,673,986 (GRCm39) S542T probably benign Het
Synpo2 T C 3: 122,873,906 (GRCm39) E1020G possibly damaging Het
Tcerg1l T A 7: 137,996,826 (GRCm39) H137L probably benign Het
Tlr12 A T 4: 128,511,229 (GRCm39) D340E probably benign Het
Tmem130 T A 5: 144,692,174 (GRCm39) T77S probably benign Het
Tmem143 C A 7: 45,547,037 (GRCm39) R68S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trem1 G T 17: 48,548,663 (GRCm39) G67* probably null Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Txndc9 A T 1: 38,033,096 (GRCm39) H95Q probably damaging Het
Yju2b C T 8: 84,986,936 (GRCm39) R187Q probably damaging Het
Zfp35 T A 18: 24,136,986 (GRCm39) N443K probably benign Het
Other mutations in D7Ertd443e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:D7Ertd443e APN 7 133,951,129 (GRCm39) missense possibly damaging 0.56
R0369:D7Ertd443e UTSW 7 133,899,866 (GRCm39) missense possibly damaging 0.56
R0501:D7Ertd443e UTSW 7 133,896,701 (GRCm39) missense probably damaging 1.00
R1073:D7Ertd443e UTSW 7 133,871,947 (GRCm39) missense probably damaging 1.00
R1083:D7Ertd443e UTSW 7 133,950,663 (GRCm39) nonsense probably null
R1744:D7Ertd443e UTSW 7 133,951,142 (GRCm39) missense probably benign 0.00
R1801:D7Ertd443e UTSW 7 133,871,941 (GRCm39) missense probably damaging 1.00
R2050:D7Ertd443e UTSW 7 133,868,527 (GRCm39) missense probably damaging 1.00
R2273:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R2274:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R2504:D7Ertd443e UTSW 7 133,951,208 (GRCm39) splice site probably null
R3699:D7Ertd443e UTSW 7 133,950,797 (GRCm39) missense probably damaging 1.00
R4348:D7Ertd443e UTSW 7 133,950,682 (GRCm39) frame shift probably null
R4516:D7Ertd443e UTSW 7 133,895,057 (GRCm39) missense probably damaging 1.00
R5123:D7Ertd443e UTSW 7 133,951,397 (GRCm39) splice site probably null
R5440:D7Ertd443e UTSW 7 133,951,004 (GRCm39) missense probably damaging 0.96
R5555:D7Ertd443e UTSW 7 133,951,320 (GRCm39) missense probably benign 0.00
R5711:D7Ertd443e UTSW 7 133,951,110 (GRCm39) missense probably benign 0.43
R5848:D7Ertd443e UTSW 7 133,951,451 (GRCm39) missense possibly damaging 0.92
R6049:D7Ertd443e UTSW 7 133,899,961 (GRCm39) missense probably benign 0.01
R6266:D7Ertd443e UTSW 7 133,951,514 (GRCm39) missense probably damaging 1.00
R6408:D7Ertd443e UTSW 7 133,951,440 (GRCm39) missense probably benign 0.27
R6939:D7Ertd443e UTSW 7 133,966,208 (GRCm39) splice site probably null
R7195:D7Ertd443e UTSW 7 133,896,851 (GRCm39) missense probably damaging 1.00
R7352:D7Ertd443e UTSW 7 133,951,123 (GRCm39) missense probably benign 0.03
R7737:D7Ertd443e UTSW 7 133,871,930 (GRCm39) missense probably damaging 1.00
R7843:D7Ertd443e UTSW 7 133,950,824 (GRCm39) missense possibly damaging 0.93
R7845:D7Ertd443e UTSW 7 133,871,977 (GRCm39) missense probably damaging 1.00
R8346:D7Ertd443e UTSW 7 133,950,485 (GRCm39) missense possibly damaging 0.63
R9120:D7Ertd443e UTSW 7 133,871,986 (GRCm39) missense probably damaging 1.00
R9166:D7Ertd443e UTSW 7 133,900,048 (GRCm39) missense probably benign 0.01
R9773:D7Ertd443e UTSW 7 133,959,803 (GRCm39) missense probably benign 0.00
Z1088:D7Ertd443e UTSW 7 133,896,711 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- CTCAAAATGAGCTGGCTCCC -3'
(R):5'- TCCCATGGAGTAAATCAGATAGCTG -3'

Sequencing Primer
(F):5'- AGAGCCAGCTTCAGGATGC -3'
(R):5'- CAGATAGCTGTATTGTTACCTGGTC -3'
Posted On 2014-06-23