Incidental Mutation 'R1648:1110002E22Rik'
ID 174005
Institutional Source Beutler Lab
Gene Symbol 1110002E22Rik
Ensembl Gene ENSMUSG00000090066
Gene Name RIKEN cDNA 1110002E22 gene
Synonyms
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.544) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 138065052-138081506 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138069420 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1457 (N1457D)
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
AA Change: N1457D

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000123851
Gene: ENSMUSG00000090066
AA Change: N1457D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184925
Meta Mutation Damage Score 0.0638 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,395,371 (GRCm38) F817L probably damaging Het
Akap6 A T 12: 53,142,006 (GRCm38) K2068* probably null Het
Alms1 T C 6: 85,678,402 (GRCm38) L3310P probably damaging Het
Ankrd27 T A 7: 35,603,853 (GRCm38) D219E probably benign Het
Atp10a T C 7: 58,784,827 (GRCm38) V283A probably damaging Het
Atp11a C T 8: 12,847,495 (GRCm38) S270L probably damaging Het
Casp3 T C 8: 46,638,074 (GRCm38) S254P probably benign Het
Cep104 G A 4: 153,979,096 (GRCm38) probably null Het
Cep170b C T 12: 112,736,372 (GRCm38) T423I probably damaging Het
Cfap58 A G 19: 47,955,405 (GRCm38) E348G probably benign Het
Chd6 A G 2: 161,042,058 (GRCm38) L89S probably damaging Het
Cyp2a22 T C 7: 26,932,368 (GRCm38) S488G probably damaging Het
D130040H23Rik C A 8: 69,302,981 (GRCm38) H363Q probably benign Het
Dcaf7 T A 11: 106,051,802 (GRCm38) F192I probably damaging Het
Ddx20 T C 3: 105,679,188 (GRCm38) I614V probably benign Het
Ehbp1 G A 11: 22,096,000 (GRCm38) T558I probably damaging Het
Eif2ak3 T A 6: 70,883,631 (GRCm38) V397D possibly damaging Het
Eif2b5 T C 16: 20,502,585 (GRCm38) V296A possibly damaging Het
Esr1 A G 10: 5,001,260 (GRCm38) E546G possibly damaging Het
Fras1 T A 5: 96,726,613 (GRCm38) probably null Het
G930045G22Rik T C 6: 50,846,718 (GRCm38) noncoding transcript Het
Gemin5 A T 11: 58,147,979 (GRCm38) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,301,883 (GRCm38) probably benign Het
Gpr155 T C 2: 73,364,164 (GRCm38) probably null Het
Has1 A G 17: 17,849,985 (GRCm38) Y225H probably damaging Het
Hk3 A G 13: 55,014,461 (GRCm38) F110S probably damaging Het
Iars1 A G 13: 49,723,002 (GRCm38) K848E possibly damaging Het
Kif17 A G 4: 138,269,895 (GRCm38) Y43C probably damaging Het
Kif20b A T 19: 34,936,790 (GRCm38) T355S possibly damaging Het
Kif21a T C 15: 90,994,367 (GRCm38) T237A probably damaging Het
Klc1 T C 12: 111,776,887 (GRCm38) L216P probably damaging Het
Krt7 A C 15: 101,412,567 (GRCm38) S32R probably damaging Het
Lama3 A G 18: 12,532,199 (GRCm38) D2330G possibly damaging Het
Limch1 T A 5: 66,999,256 (GRCm38) S511R probably damaging Het
Luzp2 T A 7: 55,264,270 (GRCm38) probably null Het
Macc1 T C 12: 119,446,421 (GRCm38) M308T probably benign Het
Mroh9 T G 1: 163,046,056 (GRCm38) E510A probably damaging Het
Myo1h G T 5: 114,336,275 (GRCm38) L458F probably damaging Het
Neto1 A T 18: 86,500,054 (GRCm38) Y528F probably damaging Het
Nlrp9b T A 7: 20,026,544 (GRCm38) C187S possibly damaging Het
Nup160 T C 2: 90,710,088 (GRCm38) Y854H probably damaging Het
Odc1 T C 12: 17,548,537 (GRCm38) probably benign Het
Or10a3n A G 7: 108,893,765 (GRCm38) I214T probably damaging Het
Or51a10 A G 7: 104,050,169 (GRCm38) Y62H probably damaging Het
Or5an10 T A 19: 12,298,659 (GRCm38) I158L probably benign Het
Plcb2 A T 2: 118,723,780 (GRCm38) M64K possibly damaging Het
Plcxd3 A T 15: 4,375,809 (GRCm38) I33F probably benign Het
Postn A G 3: 54,376,101 (GRCm38) T534A probably damaging Het
Prkd2 T A 7: 16,857,807 (GRCm38) F588I possibly damaging Het
Prrg4 C A 2: 104,832,743 (GRCm38) A173S probably benign Het
Rinl C T 7: 28,797,632 (GRCm38) A519V probably damaging Het
Rpgrip1l A C 8: 91,252,889 (GRCm38) V975G probably damaging Het
Rps6ka4 C A 19: 6,839,362 (GRCm38) V118L probably benign Het
Rtkn T C 6: 83,135,994 (GRCm38) S16P probably damaging Het
Sbspon C A 1: 15,883,759 (GRCm38) R99L probably damaging Het
Sdf4 G A 4: 155,999,429 (GRCm38) A119T probably damaging Het
Sgpp1 T A 12: 75,716,216 (GRCm38) H397L possibly damaging Het
Shc2 T A 10: 79,626,111 (GRCm38) M367L probably benign Het
Slc26a5 T A 5: 21,813,976 (GRCm38) K590* probably null Het
Slc39a12 T C 2: 14,451,992 (GRCm38) V597A probably benign Het
Smcp A T 3: 92,584,481 (GRCm38) C20S unknown Het
Tdrd6 A C 17: 43,627,109 (GRCm38) V1016G possibly damaging Het
Tmem132c T A 5: 127,463,056 (GRCm38) probably benign Het
Tmem170b A T 13: 41,606,262 (GRCm38) Q16L probably null Het
Tmem30a A G 9: 79,793,029 (GRCm38) F61S probably damaging Het
Tnfsf13b T C 8: 10,031,534 (GRCm38) M232T probably damaging Het
Trip11 T A 12: 101,884,392 (GRCm38) K853* probably null Het
Tusc3 C A 8: 39,046,567 (GRCm38) S64* probably null Het
Vmn2r111 A T 17: 22,569,061 (GRCm38) D436E probably benign Het
Zfp607a T C 7: 27,879,068 (GRCm38) V521A probably benign Het
Zfp704 A T 3: 9,471,039 (GRCm38) S140R probably damaging Het
Other mutations in 1110002E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0026:1110002E22Rik UTSW 3 138,066,805 (GRCm38) missense possibly damaging 0.95
R0047:1110002E22Rik UTSW 3 138,066,264 (GRCm38) missense probably damaging 0.97
R0047:1110002E22Rik UTSW 3 138,066,264 (GRCm38) missense probably damaging 0.97
R0102:1110002E22Rik UTSW 3 138,068,113 (GRCm38) missense probably damaging 1.00
R0102:1110002E22Rik UTSW 3 138,068,113 (GRCm38) missense probably damaging 1.00
R0197:1110002E22Rik UTSW 3 138,069,871 (GRCm38) missense probably damaging 1.00
R0239:1110002E22Rik UTSW 3 138,065,834 (GRCm38) small deletion probably benign
R0394:1110002E22Rik UTSW 3 138,067,304 (GRCm38) missense probably damaging 0.99
R0401:1110002E22Rik UTSW 3 138,070,306 (GRCm38) missense possibly damaging 0.73
R0496:1110002E22Rik UTSW 3 138,068,244 (GRCm38) missense probably damaging 1.00
R0591:1110002E22Rik UTSW 3 138,068,943 (GRCm38) nonsense probably null
R0711:1110002E22Rik UTSW 3 138,068,225 (GRCm38) missense probably damaging 0.99
R0883:1110002E22Rik UTSW 3 138,069,871 (GRCm38) missense probably damaging 1.00
R0908:1110002E22Rik UTSW 3 138,070,077 (GRCm38) missense probably damaging 0.99
R0968:1110002E22Rik UTSW 3 138,067,206 (GRCm38) missense probably damaging 0.99
R1023:1110002E22Rik UTSW 3 138,066,871 (GRCm38) missense probably damaging 1.00
R1168:1110002E22Rik UTSW 3 138,067,900 (GRCm38) missense probably benign 0.20
R1472:1110002E22Rik UTSW 3 138,067,552 (GRCm38) missense possibly damaging 0.95
R1538:1110002E22Rik UTSW 3 138,065,401 (GRCm38) missense probably benign 0.02
R1800:1110002E22Rik UTSW 3 138,066,718 (GRCm38) missense probably damaging 1.00
R1919:1110002E22Rik UTSW 3 138,067,270 (GRCm38) missense probably damaging 0.99
R1974:1110002E22Rik UTSW 3 138,067,267 (GRCm38) missense probably damaging 1.00
R1990:1110002E22Rik UTSW 3 138,065,658 (GRCm38) nonsense probably null
R1991:1110002E22Rik UTSW 3 138,065,658 (GRCm38) nonsense probably null
R2102:1110002E22Rik UTSW 3 138,065,173 (GRCm38) missense probably damaging 0.99
R2761:1110002E22Rik UTSW 3 138,067,780 (GRCm38) missense probably damaging 0.99
R2899:1110002E22Rik UTSW 3 138,065,682 (GRCm38) missense probably benign 0.00
R3618:1110002E22Rik UTSW 3 138,068,407 (GRCm38) missense probably damaging 1.00
R3904:1110002E22Rik UTSW 3 138,066,639 (GRCm38) missense probably benign 0.15
R3955:1110002E22Rik UTSW 3 138,068,073 (GRCm38) missense probably benign 0.00
R4520:1110002E22Rik UTSW 3 138,070,266 (GRCm38) missense probably damaging 0.99
R4619:1110002E22Rik UTSW 3 138,069,759 (GRCm38) missense probably damaging 0.99
R4736:1110002E22Rik UTSW 3 138,068,485 (GRCm38) missense probably damaging 0.99
R4752:1110002E22Rik UTSW 3 138,069,990 (GRCm38) missense possibly damaging 0.91
R4777:1110002E22Rik UTSW 3 138,065,742 (GRCm38) missense probably benign 0.09
R4780:1110002E22Rik UTSW 3 138,065,370 (GRCm38) missense probably benign 0.02
R4824:1110002E22Rik UTSW 3 138,065,676 (GRCm38) missense probably benign 0.00
R4829:1110002E22Rik UTSW 3 138,069,019 (GRCm38) missense probably damaging 0.99
R4965:1110002E22Rik UTSW 3 138,069,672 (GRCm38) missense probably benign
R5206:1110002E22Rik UTSW 3 138,066,511 (GRCm38) missense probably benign 0.00
R5212:1110002E22Rik UTSW 3 138,065,850 (GRCm38) missense possibly damaging 0.85
R5373:1110002E22Rik UTSW 3 138,067,635 (GRCm38) missense probably benign
R5374:1110002E22Rik UTSW 3 138,067,635 (GRCm38) missense probably benign
R5506:1110002E22Rik UTSW 3 138,067,947 (GRCm38) missense probably damaging 1.00
R5528:1110002E22Rik UTSW 3 138,066,499 (GRCm38) missense probably benign
R5536:1110002E22Rik UTSW 3 138,066,388 (GRCm38) missense possibly damaging 0.89
R5587:1110002E22Rik UTSW 3 138,065,409 (GRCm38) missense probably benign
R5759:1110002E22Rik UTSW 3 138,068,658 (GRCm38) missense probably benign
R5933:1110002E22Rik UTSW 3 138,070,348 (GRCm38) missense probably damaging 1.00
R5957:1110002E22Rik UTSW 3 138,070,161 (GRCm38) missense probably benign
R6092:1110002E22Rik UTSW 3 138,068,940 (GRCm38) missense probably benign 0.02
R6305:1110002E22Rik UTSW 3 138,067,980 (GRCm38) missense probably damaging 1.00
R6457:1110002E22Rik UTSW 3 138,066,622 (GRCm38) missense probably damaging 1.00
R6469:1110002E22Rik UTSW 3 138,066,975 (GRCm38) missense probably damaging 0.97
R6499:1110002E22Rik UTSW 3 138,068,800 (GRCm38) missense probably damaging 1.00
R6527:1110002E22Rik UTSW 3 138,067,527 (GRCm38) missense probably damaging 0.99
R6580:1110002E22Rik UTSW 3 138,066,625 (GRCm38) missense probably benign 0.00
R6693:1110002E22Rik UTSW 3 138,069,154 (GRCm38) missense probably benign 0.00
R6751:1110002E22Rik UTSW 3 138,066,210 (GRCm38) missense probably damaging 1.00
R6852:1110002E22Rik UTSW 3 138,065,169 (GRCm38) nonsense probably null
R6920:1110002E22Rik UTSW 3 138,068,050 (GRCm38) missense probably damaging 1.00
R7001:1110002E22Rik UTSW 3 138,065,511 (GRCm38) missense probably benign
R7145:1110002E22Rik UTSW 3 138,070,059 (GRCm38) missense probably damaging 1.00
R7238:1110002E22Rik UTSW 3 138,069,951 (GRCm38) missense probably damaging 1.00
R7278:1110002E22Rik UTSW 3 138,065,476 (GRCm38) missense probably benign
R7425:1110002E22Rik UTSW 3 138,065,695 (GRCm38) missense probably benign 0.00
R7487:1110002E22Rik UTSW 3 138,066,868 (GRCm38) missense probably damaging 1.00
R7557:1110002E22Rik UTSW 3 138,068,283 (GRCm38) nonsense probably null
R7663:1110002E22Rik UTSW 3 138,066,126 (GRCm38) missense probably damaging 0.98
R7743:1110002E22Rik UTSW 3 138,068,755 (GRCm38) missense probably damaging 1.00
R7799:1110002E22Rik UTSW 3 138,069,601 (GRCm38) missense probably benign 0.33
R8181:1110002E22Rik UTSW 3 138,068,395 (GRCm38) missense probably damaging 0.99
R8264:1110002E22Rik UTSW 3 138,067,782 (GRCm38) missense probably damaging 0.99
R8273:1110002E22Rik UTSW 3 138,066,450 (GRCm38) missense probably benign
R8434:1110002E22Rik UTSW 3 138,067,260 (GRCm38) missense probably damaging 0.97
R8530:1110002E22Rik UTSW 3 138,068,825 (GRCm38) missense probably damaging 0.99
R8754:1110002E22Rik UTSW 3 138,066,037 (GRCm38) missense probably benign
R8808:1110002E22Rik UTSW 3 138,070,113 (GRCm38) missense probably benign 0.01
R8891:1110002E22Rik UTSW 3 138,066,759 (GRCm38) nonsense probably null
R9026:1110002E22Rik UTSW 3 138,065,148 (GRCm38) missense possibly damaging 0.53
R9177:1110002E22Rik UTSW 3 138,069,916 (GRCm38) missense probably damaging 1.00
R9250:1110002E22Rik UTSW 3 138,066,628 (GRCm38) missense probably damaging 1.00
R9291:1110002E22Rik UTSW 3 138,066,703 (GRCm38) missense probably benign 0.02
R9293:1110002E22Rik UTSW 3 138,066,078 (GRCm38) missense possibly damaging 0.93
R9307:1110002E22Rik UTSW 3 138,065,422 (GRCm38) missense probably benign 0.04
R9439:1110002E22Rik UTSW 3 138,066,287 (GRCm38) missense probably benign 0.00
R9509:1110002E22Rik UTSW 3 138,065,834 (GRCm38) small deletion probably benign
R9582:1110002E22Rik UTSW 3 138,067,005 (GRCm38) missense probably damaging 0.99
R9599:1110002E22Rik UTSW 3 138,068,506 (GRCm38) missense probably benign 0.16
R9613:1110002E22Rik UTSW 3 138,065,365 (GRCm38) missense probably damaging 0.98
R9670:1110002E22Rik UTSW 3 138,065,133 (GRCm38) missense probably benign
X0003:1110002E22Rik UTSW 3 138,069,096 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGGAAAGAACACAACCTTTGCAGC -3'
(R):5'- AGCAACGACTGTTTCTCGGTGG -3'

Sequencing Primer
(F):5'- TCACGGTGAGTTCTAGCAGC -3'
(R):5'- GGTTCCACTGACCTGAGATCC -3'
Posted On 2014-04-24