Incidental Mutation 'R9509:1110002E22Rik'
ID 717985
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.545) question?
Stock # R9509 (G1)
Quality Score 100.467
Status Not validated
Chromosome 3
Chromosomal Location 137770813-137787267 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) TTCCTCCTCCTCCTCCTCCTCC to TTCCTCCTCCTCCTCCTCC at 137771595 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053318] [ENSMUST00000163080]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053318
Predicted Effect probably benign
Transcript: ENSMUST00000163080
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066

DomainStartEndE-ValueType
low complexity region 44 55 N/A INTRINSIC
low complexity region 87 102 N/A INTRINSIC
low complexity region 229 247 N/A INTRINSIC
low complexity region 422 438 N/A INTRINSIC
low complexity region 459 505 N/A INTRINSIC
low complexity region 667 680 N/A INTRINSIC
low complexity region 937 948 N/A INTRINSIC
low complexity region 995 1007 N/A INTRINSIC
low complexity region 1105 1115 N/A INTRINSIC
low complexity region 1224 1242 N/A INTRINSIC
low complexity region 1376 1385 N/A INTRINSIC
Pfam:DUF4585 1598 1667 6.9e-32 PFAM
low complexity region 1723 1738 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan C T 7: 78,740,768 (GRCm39) P378L probably damaging Het
Akap6 A G 12: 53,189,021 (GRCm39) D2145G probably damaging Het
Akap9 A T 5: 4,096,349 (GRCm39) D2408V probably benign Het
Apol10a C A 15: 77,372,968 (GRCm39) Y201* probably null Het
Arhgef4 T C 1: 34,762,772 (GRCm39) I676T unknown Het
Capn13 T C 17: 73,644,446 (GRCm39) H361R probably benign Het
Ccdc88a G A 11: 29,414,143 (GRCm39) V894I probably benign Het
Chd4 T A 6: 125,099,485 (GRCm39) L1655Q possibly damaging Het
Chi3l1 G A 1: 134,116,413 (GRCm39) E307K probably damaging Het
Dhfr T A 13: 92,504,739 (GRCm39) I139N probably damaging Het
Dock8 A G 19: 25,072,985 (GRCm39) S422G probably benign Het
Dspp C A 5: 104,325,657 (GRCm39) D673E unknown Het
Dst G T 1: 33,947,465 (GRCm39) W38L possibly damaging Het
Dynlt1b A T 17: 6,702,415 (GRCm39) E26D probably benign Het
Dysf A T 6: 84,187,779 (GRCm39) Y2059F probably damaging Het
Efcab5 G A 11: 76,994,977 (GRCm39) S1198F possibly damaging Het
Erp44 T C 4: 48,208,750 (GRCm39) I237V probably benign Het
Exosc2 G A 2: 31,564,755 (GRCm39) V107I probably benign Het
Fat2 A G 11: 55,200,713 (GRCm39) V787A possibly damaging Het
Fbn2 C G 18: 58,247,550 (GRCm39) G448A probably benign Het
Fbxw21 A G 9: 108,977,217 (GRCm39) V164A possibly damaging Het
Gabpa G A 16: 84,649,395 (GRCm39) V201I possibly damaging Het
Gm12253 G A 11: 58,330,771 (GRCm39) V177M probably benign Het
Il2rb C A 15: 78,374,416 (GRCm39) W84L probably damaging Het
Kank4 T A 4: 98,663,104 (GRCm39) T695S possibly damaging Het
Klhl29 T C 12: 5,190,629 (GRCm39) Q122R probably damaging Het
L3mbtl1 A G 2: 162,809,303 (GRCm39) E670G probably damaging Het
Lifr A G 15: 7,188,955 (GRCm39) Y112C probably damaging Het
Lins1 C T 7: 66,358,119 (GRCm39) Q85* probably null Het
Lpcat1 T A 13: 73,642,951 (GRCm39) V175E probably damaging Het
Mdm1 T C 10: 117,982,730 (GRCm39) S122P probably damaging Het
Mtfmt C T 9: 65,343,147 (GRCm39) R18C probably benign Het
Mylk4 T C 13: 32,904,543 (GRCm39) N197S probably benign Het
Neurl4 T A 11: 69,792,971 (GRCm39) L83* probably null Het
Nlrc3 T C 16: 3,782,680 (GRCm39) D259G probably damaging Het
Nsf A T 11: 103,754,074 (GRCm39) D487E probably benign Het
Or2n1e A G 17: 38,586,281 (GRCm39) I206M probably benign Het
Or2y1 A G 11: 49,385,476 (GRCm39) I39V probably benign Het
Or5p50 T A 7: 107,422,440 (GRCm39) T79S probably benign Het
Palb2 T A 7: 121,727,399 (GRCm39) K157M probably damaging Het
Pbrm1 T C 14: 30,806,914 (GRCm39) S1114P probably damaging Het
Pdia6 T A 12: 17,330,989 (GRCm39) M364K probably damaging Het
Pf4 G T 5: 90,921,048 (GRCm39) G83W probably damaging Het
Pibf1 T C 14: 99,338,721 (GRCm39) M79T probably benign Het
Pip4p2 T A 4: 14,892,485 (GRCm39) C116* probably null Het
Polr3b T G 10: 84,467,650 (GRCm39) Y77D probably damaging Het
Pomt2 T A 12: 87,184,802 (GRCm39) H208L possibly damaging Het
Pprc1 A T 19: 46,051,838 (GRCm39) K456M unknown Het
Rasgef1a A T 6: 118,061,391 (GRCm39) K119* probably null Het
Rbbp6 T A 7: 122,597,791 (GRCm39) Y701N unknown Het
Relch A G 1: 105,614,704 (GRCm39) E216G probably damaging Het
Reln A T 5: 22,549,198 (GRCm39) V70E possibly damaging Het
Rgs17 T C 10: 5,812,576 (GRCm39) N41S probably benign Het
Rhbdf1 A T 11: 32,165,055 (GRCm39) I106N possibly damaging Het
Robo1 T A 16: 72,759,167 (GRCm39) N393K probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Scart2 T A 7: 139,879,644 (GRCm39) Y1093* probably null Het
Scnn1a A T 6: 125,319,604 (GRCm39) D495V probably damaging Het
Serpinf2 G A 11: 75,328,895 (GRCm39) P45L probably benign Het
Setdb1 A C 3: 95,261,900 (GRCm39) I122S possibly damaging Het
Slc4a9 A T 18: 36,668,443 (GRCm39) M701L probably damaging Het
Spata31h1 A T 10: 82,132,229 (GRCm39) N260K probably benign Het
Supv3l1 T C 10: 62,265,411 (GRCm39) T710A probably benign Het
Syne1 A T 10: 5,298,927 (GRCm39) probably null Het
Tenm3 A T 8: 48,766,292 (GRCm39) Y743* probably null Het
Tgm2 A T 2: 157,969,210 (GRCm39) Y388* probably null Het
Tor3a A G 1: 156,483,499 (GRCm39) S308P possibly damaging Het
Trim12a T C 7: 103,953,551 (GRCm39) K187E probably benign Het
Trpc1 C T 9: 95,625,249 (GRCm39) probably null Het
Uaca C T 9: 60,779,498 (GRCm39) T1295M possibly damaging Het
Ush2a T A 1: 188,648,440 (GRCm39) Y4682N probably damaging Het
Vldlr A G 19: 27,221,687 (GRCm39) N684S probably benign Het
Vmn2r72 T A 7: 85,404,075 (GRCm39) I39L probably benign Het
Vps13b A T 15: 35,841,457 (GRCm39) M2496L possibly damaging Het
Zbtb5 C T 4: 44,994,332 (GRCm39) V351M probably damaging Het
Zeb2 T A 2: 44,887,876 (GRCm39) T394S possibly damaging Het
Zfp352 A G 4: 90,112,943 (GRCm39) E361G probably damaging Het
Zfp54 C A 17: 21,654,629 (GRCm39) Y374* probably null Het
Zfp869 C A 8: 70,159,596 (GRCm39) G326W probably damaging Het
Zfyve28 C T 5: 34,354,892 (GRCm39) A806T probably benign Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:1110002E22Rik UTSW 3 137,772,566 (GRCm39) missense possibly damaging 0.95
R0047:1110002E22Rik UTSW 3 137,772,025 (GRCm39) missense probably damaging 0.97
R0047:1110002E22Rik UTSW 3 137,772,025 (GRCm39) missense probably damaging 0.97
R0102:1110002E22Rik UTSW 3 137,773,874 (GRCm39) missense probably damaging 1.00
R0102:1110002E22Rik UTSW 3 137,773,874 (GRCm39) missense probably damaging 1.00
R0197:1110002E22Rik UTSW 3 137,775,632 (GRCm39) missense probably damaging 1.00
R0239:1110002E22Rik UTSW 3 137,771,595 (GRCm39) small deletion probably benign
R0394:1110002E22Rik UTSW 3 137,773,065 (GRCm39) missense probably damaging 0.99
R0401:1110002E22Rik UTSW 3 137,776,067 (GRCm39) missense possibly damaging 0.73
R0496:1110002E22Rik UTSW 3 137,774,005 (GRCm39) missense probably damaging 1.00
R0591:1110002E22Rik UTSW 3 137,774,704 (GRCm39) nonsense probably null
R0711:1110002E22Rik UTSW 3 137,773,986 (GRCm39) missense probably damaging 0.99
R0883:1110002E22Rik UTSW 3 137,775,632 (GRCm39) missense probably damaging 1.00
R0908:1110002E22Rik UTSW 3 137,775,838 (GRCm39) missense probably damaging 0.99
R0968:1110002E22Rik UTSW 3 137,772,967 (GRCm39) missense probably damaging 0.99
R1023:1110002E22Rik UTSW 3 137,772,632 (GRCm39) missense probably damaging 1.00
R1168:1110002E22Rik UTSW 3 137,773,661 (GRCm39) missense probably benign 0.20
R1472:1110002E22Rik UTSW 3 137,773,313 (GRCm39) missense possibly damaging 0.95
R1538:1110002E22Rik UTSW 3 137,771,162 (GRCm39) missense probably benign 0.02
R1648:1110002E22Rik UTSW 3 137,775,181 (GRCm39) missense probably benign 0.18
R1800:1110002E22Rik UTSW 3 137,772,479 (GRCm39) missense probably damaging 1.00
R1919:1110002E22Rik UTSW 3 137,773,031 (GRCm39) missense probably damaging 0.99
R1974:1110002E22Rik UTSW 3 137,773,028 (GRCm39) missense probably damaging 1.00
R1990:1110002E22Rik UTSW 3 137,771,419 (GRCm39) nonsense probably null
R1991:1110002E22Rik UTSW 3 137,771,419 (GRCm39) nonsense probably null
R2102:1110002E22Rik UTSW 3 137,770,934 (GRCm39) missense probably damaging 0.99
R2761:1110002E22Rik UTSW 3 137,773,541 (GRCm39) missense probably damaging 0.99
R2899:1110002E22Rik UTSW 3 137,771,443 (GRCm39) missense probably benign 0.00
R3618:1110002E22Rik UTSW 3 137,774,168 (GRCm39) missense probably damaging 1.00
R3904:1110002E22Rik UTSW 3 137,772,400 (GRCm39) missense probably benign 0.15
R3955:1110002E22Rik UTSW 3 137,773,834 (GRCm39) missense probably benign 0.00
R4520:1110002E22Rik UTSW 3 137,776,027 (GRCm39) missense probably damaging 0.99
R4619:1110002E22Rik UTSW 3 137,775,520 (GRCm39) missense probably damaging 0.99
R4736:1110002E22Rik UTSW 3 137,774,246 (GRCm39) missense probably damaging 0.99
R4752:1110002E22Rik UTSW 3 137,775,751 (GRCm39) missense possibly damaging 0.91
R4777:1110002E22Rik UTSW 3 137,771,503 (GRCm39) missense probably benign 0.09
R4780:1110002E22Rik UTSW 3 137,771,131 (GRCm39) missense probably benign 0.02
R4824:1110002E22Rik UTSW 3 137,771,437 (GRCm39) missense probably benign 0.00
R4829:1110002E22Rik UTSW 3 137,774,780 (GRCm39) missense probably damaging 0.99
R4965:1110002E22Rik UTSW 3 137,775,433 (GRCm39) missense probably benign
R5206:1110002E22Rik UTSW 3 137,772,272 (GRCm39) missense probably benign 0.00
R5212:1110002E22Rik UTSW 3 137,771,611 (GRCm39) missense possibly damaging 0.85
R5373:1110002E22Rik UTSW 3 137,773,396 (GRCm39) missense probably benign
R5374:1110002E22Rik UTSW 3 137,773,396 (GRCm39) missense probably benign
R5506:1110002E22Rik UTSW 3 137,773,708 (GRCm39) missense probably damaging 1.00
R5528:1110002E22Rik UTSW 3 137,772,260 (GRCm39) missense probably benign
R5536:1110002E22Rik UTSW 3 137,772,149 (GRCm39) missense possibly damaging 0.89
R5587:1110002E22Rik UTSW 3 137,771,170 (GRCm39) missense probably benign
R5759:1110002E22Rik UTSW 3 137,774,419 (GRCm39) missense probably benign
R5933:1110002E22Rik UTSW 3 137,776,109 (GRCm39) missense probably damaging 1.00
R5957:1110002E22Rik UTSW 3 137,775,922 (GRCm39) missense probably benign
R6092:1110002E22Rik UTSW 3 137,774,701 (GRCm39) missense probably benign 0.02
R6305:1110002E22Rik UTSW 3 137,773,741 (GRCm39) missense probably damaging 1.00
R6457:1110002E22Rik UTSW 3 137,772,383 (GRCm39) missense probably damaging 1.00
R6469:1110002E22Rik UTSW 3 137,772,736 (GRCm39) missense probably damaging 0.97
R6499:1110002E22Rik UTSW 3 137,774,561 (GRCm39) missense probably damaging 1.00
R6527:1110002E22Rik UTSW 3 137,773,288 (GRCm39) missense probably damaging 0.99
R6580:1110002E22Rik UTSW 3 137,772,386 (GRCm39) missense probably benign 0.00
R6693:1110002E22Rik UTSW 3 137,774,915 (GRCm39) missense probably benign 0.00
R6751:1110002E22Rik UTSW 3 137,771,971 (GRCm39) missense probably damaging 1.00
R6852:1110002E22Rik UTSW 3 137,770,930 (GRCm39) nonsense probably null
R6920:1110002E22Rik UTSW 3 137,773,811 (GRCm39) missense probably damaging 1.00
R7001:1110002E22Rik UTSW 3 137,771,272 (GRCm39) missense probably benign
R7145:1110002E22Rik UTSW 3 137,775,820 (GRCm39) missense probably damaging 1.00
R7238:1110002E22Rik UTSW 3 137,775,712 (GRCm39) missense probably damaging 1.00
R7278:1110002E22Rik UTSW 3 137,771,237 (GRCm39) missense probably benign
R7425:1110002E22Rik UTSW 3 137,771,456 (GRCm39) missense probably benign 0.00
R7487:1110002E22Rik UTSW 3 137,772,629 (GRCm39) missense probably damaging 1.00
R7557:1110002E22Rik UTSW 3 137,774,044 (GRCm39) nonsense probably null
R7663:1110002E22Rik UTSW 3 137,771,887 (GRCm39) missense probably damaging 0.98
R7743:1110002E22Rik UTSW 3 137,774,516 (GRCm39) missense probably damaging 1.00
R7799:1110002E22Rik UTSW 3 137,775,362 (GRCm39) missense probably benign 0.33
R8181:1110002E22Rik UTSW 3 137,774,156 (GRCm39) missense probably damaging 0.99
R8264:1110002E22Rik UTSW 3 137,773,543 (GRCm39) missense probably damaging 0.99
R8273:1110002E22Rik UTSW 3 137,772,211 (GRCm39) missense probably benign
R8434:1110002E22Rik UTSW 3 137,773,021 (GRCm39) missense probably damaging 0.97
R8530:1110002E22Rik UTSW 3 137,774,586 (GRCm39) missense probably damaging 0.99
R8754:1110002E22Rik UTSW 3 137,771,798 (GRCm39) missense probably benign
R8808:1110002E22Rik UTSW 3 137,775,874 (GRCm39) missense probably benign 0.01
R8891:1110002E22Rik UTSW 3 137,772,520 (GRCm39) nonsense probably null
R9026:1110002E22Rik UTSW 3 137,770,909 (GRCm39) missense possibly damaging 0.53
R9177:1110002E22Rik UTSW 3 137,775,677 (GRCm39) missense probably damaging 1.00
R9250:1110002E22Rik UTSW 3 137,772,389 (GRCm39) missense probably damaging 1.00
R9291:1110002E22Rik UTSW 3 137,772,464 (GRCm39) missense probably benign 0.02
R9293:1110002E22Rik UTSW 3 137,771,839 (GRCm39) missense possibly damaging 0.93
R9307:1110002E22Rik UTSW 3 137,771,183 (GRCm39) missense probably benign 0.04
R9439:1110002E22Rik UTSW 3 137,772,048 (GRCm39) missense probably benign 0.00
R9582:1110002E22Rik UTSW 3 137,772,766 (GRCm39) missense probably damaging 0.99
R9599:1110002E22Rik UTSW 3 137,774,267 (GRCm39) missense probably benign 0.16
R9613:1110002E22Rik UTSW 3 137,771,126 (GRCm39) missense probably damaging 0.98
R9670:1110002E22Rik UTSW 3 137,770,894 (GRCm39) missense probably benign
X0003:1110002E22Rik UTSW 3 137,774,857 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAAGTATGTGGAGACGTGTGC -3'
(R):5'- AGGACGCTATTCCATCATCGAC -3'

Sequencing Primer
(F):5'- TGCTTCAGCTGGACTCCGAAG -3'
(R):5'- GCTATTCCATCATCGACCCCTC -3'
Posted On 2022-07-18