Incidental Mutation 'R4880:2610021A01Rik'
ID 375215
Institutional Source Beutler Lab
Gene Symbol 2610021A01Rik
Ensembl Gene ENSMUSG00000091474
Gene Name RIKEN cDNA 2610021A01 gene
Synonyms
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 41248654-41277957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41276529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 744 (I744T)
Ref Sequence ENSEMBL: ENSMUSP00000127760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163475]
AlphaFold E9Q0Q3
Predicted Effect possibly damaging
Transcript: ENSMUST00000163475
AA Change: I744T

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127760
Gene: ENSMUSG00000091474
AA Change: I744T

DomainStartEndE-ValueType
KRAB 18 78 1.32e-32 SMART
ZnF_C2H2 415 437 4.54e-4 SMART
ZnF_C2H2 443 465 3.69e-4 SMART
ZnF_C2H2 471 493 5.14e-3 SMART
ZnF_C2H2 499 521 4.94e-5 SMART
ZnF_C2H2 527 549 3.16e-3 SMART
ZnF_C2H2 555 577 3.16e-3 SMART
ZnF_C2H2 583 605 8.6e-5 SMART
ZnF_C2H2 611 633 1.79e-2 SMART
ZnF_C2H2 639 661 2.43e-4 SMART
ZnF_C2H2 667 689 1.72e-4 SMART
ZnF_C2H2 695 717 9.73e-4 SMART
ZnF_C2H2 723 745 2.02e-1 SMART
ZnF_C2H2 751 773 1.69e-3 SMART
ZnF_C2H2 779 801 3.69e-4 SMART
ZnF_C2H2 807 829 7.37e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206757
Meta Mutation Damage Score 0.1314 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Uroc1 G T 6: 90,334,519 (GRCm39) R577L probably damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E probably benign Het
Other mutations in 2610021A01Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:2610021A01Rik APN 7 41,274,996 (GRCm39) missense possibly damaging 0.61
IGL00566:2610021A01Rik APN 7 41,274,815 (GRCm39) missense possibly damaging 0.53
R0940:2610021A01Rik UTSW 7 41,275,858 (GRCm39) missense probably damaging 1.00
R1101:2610021A01Rik UTSW 7 41,276,783 (GRCm39) missense probably damaging 1.00
R1180:2610021A01Rik UTSW 7 41,275,141 (GRCm39) missense probably benign 0.41
R1560:2610021A01Rik UTSW 7 41,275,466 (GRCm39) missense probably benign 0.09
R1740:2610021A01Rik UTSW 7 41,275,549 (GRCm39) nonsense probably null
R1988:2610021A01Rik UTSW 7 41,276,081 (GRCm39) nonsense probably null
R2041:2610021A01Rik UTSW 7 41,275,403 (GRCm39) missense possibly damaging 0.63
R2964:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R2965:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R2966:2610021A01Rik UTSW 7 41,275,829 (GRCm39) nonsense probably null
R4002:2610021A01Rik UTSW 7 41,274,964 (GRCm39) missense possibly damaging 0.83
R4569:2610021A01Rik UTSW 7 41,275,262 (GRCm39) missense probably benign 0.04
R4708:2610021A01Rik UTSW 7 41,261,309 (GRCm39) missense probably damaging 1.00
R4933:2610021A01Rik UTSW 7 41,276,226 (GRCm39) missense probably damaging 0.98
R5036:2610021A01Rik UTSW 7 41,275,578 (GRCm39) missense possibly damaging 0.92
R5206:2610021A01Rik UTSW 7 41,276,009 (GRCm39) nonsense probably null
R5235:2610021A01Rik UTSW 7 41,274,256 (GRCm39) missense possibly damaging 0.53
R6449:2610021A01Rik UTSW 7 41,275,298 (GRCm39) nonsense probably null
R6488:2610021A01Rik UTSW 7 41,275,298 (GRCm39) nonsense probably null
R6904:2610021A01Rik UTSW 7 41,275,516 (GRCm39) nonsense probably null
R7058:2610021A01Rik UTSW 7 41,275,554 (GRCm39) missense possibly damaging 0.61
R7157:2610021A01Rik UTSW 7 41,276,400 (GRCm39) missense probably damaging 1.00
R7392:2610021A01Rik UTSW 7 41,275,990 (GRCm39) missense probably damaging 1.00
R7589:2610021A01Rik UTSW 7 41,276,396 (GRCm39) missense probably damaging 1.00
R7648:2610021A01Rik UTSW 7 41,261,886 (GRCm39) missense possibly damaging 0.51
R7785:2610021A01Rik UTSW 7 41,262,617 (GRCm39) missense probably benign
R8153:2610021A01Rik UTSW 7 41,275,157 (GRCm39) missense probably benign 0.00
R8199:2610021A01Rik UTSW 7 41,275,304 (GRCm39) missense probably damaging 0.98
R8943:2610021A01Rik UTSW 7 41,275,667 (GRCm39) missense probably damaging 0.98
R9052:2610021A01Rik UTSW 7 41,275,449 (GRCm39) missense probably benign 0.29
R9071:2610021A01Rik UTSW 7 41,274,783 (GRCm39) missense probably benign
R9169:2610021A01Rik UTSW 7 41,261,109 (GRCm39) start gained probably benign
R9209:2610021A01Rik UTSW 7 41,275,837 (GRCm39) missense possibly damaging 0.79
R9281:2610021A01Rik UTSW 7 41,274,184 (GRCm39) missense possibly damaging 0.73
R9530:2610021A01Rik UTSW 7 41,274,165 (GRCm39) missense possibly damaging 0.53
R9612:2610021A01Rik UTSW 7 41,276,327 (GRCm39) missense possibly damaging 0.73
X0067:2610021A01Rik UTSW 7 41,276,741 (GRCm39) missense probably benign 0.09
Z1176:2610021A01Rik UTSW 7 41,274,766 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- ACAGATTGCGGCAAGTCCTT -3'
(R):5'- TCCAGTATGGATTCCAGGATGA -3'

Sequencing Primer
(F):5'- GCGGCAAGTCCTTTTCTAATAG -3'
(R):5'- GTAAAGGACTTGCCACAATCTGTGC -3'
Posted On 2016-03-17