Incidental Mutation 'R9773:D7Ertd443e'
ID 733535
Institutional Source Beutler Lab
Gene Symbol D7Ertd443e
Ensembl Gene ENSMUSG00000030994
Gene Name DNA segment, Chr 7, ERATO Doi 443, expressed
Synonyms 4933400E14Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9773 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 133867508-134102889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 133959803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 12 (T12M)
Ref Sequence ENSEMBL: ENSMUSP00000134479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754]
AlphaFold D2J0Y4
Predicted Effect probably benign
Transcript: ENSMUST00000094002
SMART Domains Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994

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 benign
Transcript: ENSMUST00000172947
AA Change: T12M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: T12M

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: ENSMUST00000173195
Predicted Effect probably benign
Transcript: ENSMUST00000173754
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,668,057 (GRCm39) Y483H possibly damaging Het
Abca17 A G 17: 24,508,565 (GRCm39) L990P probably damaging Het
Ankrd65 A C 4: 155,877,424 (GRCm39) T312P probably damaging Het
Atp23 G A 10: 126,734,763 (GRCm39) T103M possibly damaging Het
Bmpr2 T A 1: 59,907,497 (GRCm39) S863R probably damaging Het
Cacna1c T A 6: 118,647,371 (GRCm39) N992I Het
Cacnb2 A G 2: 14,976,452 (GRCm39) E291G probably damaging Het
Calcrl T C 2: 84,200,462 (GRCm39) Q106R probably benign Het
Clip2 C T 5: 134,533,616 (GRCm39) R487Q probably benign Het
Cngb1 G A 8: 95,975,042 (GRCm39) H1144Y probably damaging Het
Cnot4 A T 6: 35,056,920 (GRCm39) N50K probably damaging Het
Coasy T C 11: 100,975,163 (GRCm39) L240P probably damaging Het
Exoc3l2 A G 7: 19,203,697 (GRCm39) I96M Het
Fbn2 A G 18: 58,143,481 (GRCm39) L2858P probably benign Het
Fbxw21 A G 9: 108,977,128 (GRCm39) S194P possibly damaging Het
Fry T C 5: 150,322,728 (GRCm39) L1040P probably damaging Het
Gimap8 C T 6: 48,633,568 (GRCm39) P300S unknown Het
Gm10801 T G 2: 98,494,345 (GRCm39) F141V probably benign Het
Gm21903 G A 17: 39,353,541 (GRCm39) T25I unknown Het
Gucy2d T C 7: 98,099,048 (GRCm39) V288A possibly damaging Het
Hs6st3 A T 14: 120,106,948 (GRCm39) D452V probably benign Het
Igkv5-43 T A 6: 69,752,858 (GRCm39) I75F probably damaging Het
Itgad G A 7: 127,789,222 (GRCm39) R562H probably damaging Het
Kbtbd12 T A 6: 88,524,744 (GRCm39) D613V probably damaging Het
Kcnn2 A G 18: 45,788,365 (GRCm39) T363A probably damaging Het
Kyat3 A G 3: 142,431,820 (GRCm39) I213M probably damaging Het
Lrig2 A T 3: 104,368,838 (GRCm39) H948Q probably benign Het
Marchf7 C T 2: 60,064,785 (GRCm39) R354* probably null Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Myh4 C T 11: 67,137,263 (GRCm39) H495Y probably damaging Het
Or13a23-ps1 T C 7: 140,118,649 (GRCm39) V73A probably benign Het
Or4d10b A T 19: 12,036,939 (GRCm39) M59K possibly damaging Het
Or6c69c T A 10: 129,910,360 (GRCm39) I27N possibly damaging Het
Plcb2 T C 2: 118,541,274 (GRCm39) E1021G probably damaging Het
Plekhg2 G A 7: 28,069,743 (GRCm39) P97S probably damaging Het
Pon1 T C 6: 5,177,339 (GRCm39) Y190C possibly damaging Het
Pth1r C A 9: 110,556,233 (GRCm39) R213S possibly damaging Het
Ptprg A G 14: 12,199,806 (GRCm38) D848G probably damaging Het
Rnpepl1 C A 1: 92,847,559 (GRCm39) D715E probably damaging Het
Serpinb3b C A 1: 107,085,416 (GRCm39) K108N possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Slc22a30 A T 19: 8,321,754 (GRCm39) Y437N probably benign Het
Slc2a7 C T 4: 150,234,044 (GRCm39) T53I possibly damaging Het
Spag1 A G 15: 36,234,711 (GRCm39) T824A probably benign Het
Spmip7 G A 11: 11,438,572 (GRCm39) V272M unknown Het
Synj2 T A 17: 6,094,232 (GRCm39) Y1153N probably benign Het
Ttll2 A T 17: 7,618,676 (GRCm39) I417K probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Uevld A G 7: 46,597,659 (GRCm39) probably null Het
Vmn2r38 A G 7: 9,097,806 (GRCm39) S96P probably damaging Het
Vmn2r92 A G 17: 18,386,949 (GRCm39) N96S probably damaging Het
Vmn2r97 T A 17: 19,168,221 (GRCm39) I825N probably benign Het
Vps13d T A 4: 144,818,619 (GRCm39) M3083L Het
Wdr35 A G 12: 9,039,990 (GRCm39) N365S 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
R1807:D7Ertd443e UTSW 7 133,895,034 (GRCm39) missense probably null 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
Z1088:D7Ertd443e UTSW 7 133,896,711 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGGCCTAATAGTCTGGCTCCTC -3'
(R):5'- AAGGAGGGATACAGGTTTTGTC -3'

Sequencing Primer
(F):5'- TGAGGTAGACCATCATACTTTCC -3'
(R):5'- CATGGCTTGTAATATACCAGAATTGC -3'
Posted On 2022-11-14