Incidental Mutation 'R5466:Uimc1'
ID 433252
Institutional Source Beutler Lab
Gene Symbol Uimc1
Ensembl Gene ENSMUSG00000025878
Gene Name ubiquitin interaction motif containing 1
Synonyms D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik
MMRRC Submission 043027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5466 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 55175693-55248113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55223661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000120935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026997] [ENSMUST00000099496] [ENSMUST00000127195] [ENSMUST00000148702]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026997
AA Change: S204P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: S204P

DomainStartEndE-ValueType
UIM 80 99 7.87e-2 SMART
UIM 105 124 6.73e1 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 388 393 N/A INTRINSIC
low complexity region 714 727 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099496
SMART Domains Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878

DomainStartEndE-ValueType
UIM 80 99 7.87e-2 SMART
UIM 105 124 1.53e1 SMART
low complexity region 433 446 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000127195
AA Change: S204P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: S204P

DomainStartEndE-ValueType
UIM 80 99 7.87e-2 SMART
UIM 105 124 6.73e1 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 388 393 N/A INTRINSIC
low complexity region 714 727 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133187
Predicted Effect probably damaging
Transcript: ENSMUST00000148702
AA Change: S204P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
AA Change: S204P

DomainStartEndE-ValueType
UIM 80 99 7.87e-2 SMART
UIM 105 124 6.73e1 SMART
low complexity region 195 206 N/A INTRINSIC
low complexity region 388 393 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death due to B-cell lymphomas and abnormal DNA repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,541,733 (GRCm39) A17E probably benign Het
Actc1 T C 2: 113,880,979 (GRCm39) D82G probably damaging Het
Aox1 G C 1: 58,080,619 (GRCm39) E23Q probably damaging Het
Arap3 A G 18: 38,129,789 (GRCm39) V124A probably benign Het
Armc5 A G 7: 127,839,336 (GRCm39) N218S probably damaging Het
Cacna2d1 T A 5: 16,451,712 (GRCm39) V192E probably damaging Het
Col6a5 T A 9: 105,808,282 (GRCm39) E922V unknown Het
Dennd4b G A 3: 90,175,807 (GRCm39) probably null Het
Dnah12 A G 14: 26,493,007 (GRCm39) D1256G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dpy19l1 T C 9: 24,325,684 (GRCm39) E707G probably damaging Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fgf11 T C 11: 69,690,267 (GRCm39) I107V probably damaging Het
Fuca2 C T 10: 13,388,441 (GRCm39) Q406* probably null Het
Gm10428 A G 11: 62,643,932 (GRCm39) probably benign Het
Gm17430 A G 18: 9,726,228 (GRCm39) V148A probably benign Het
Gm5930 A T 14: 44,575,014 (GRCm39) N57K probably damaging Het
Gucy2c T A 6: 136,758,463 (GRCm39) K48* probably null Het
Ip6k2 C T 9: 108,675,661 (GRCm39) R109C probably damaging Het
Kif21b T A 1: 136,075,263 (GRCm39) F159I probably damaging Het
Macf1 A T 4: 123,346,658 (GRCm39) S1981T possibly damaging Het
Mga T A 2: 119,733,178 (GRCm39) L9M probably damaging Het
Mov10l1 T C 15: 88,869,904 (GRCm39) probably null Het
Msrb1 A T 17: 24,958,533 (GRCm39) H39L possibly damaging Het
Or4c117 A T 2: 88,955,477 (GRCm39) F199L probably benign Het
Or6b1 A T 6: 42,815,027 (GRCm39) T71S probably benign Het
Pcdha1 G A 18: 37,065,312 (GRCm39) A659T possibly damaging Het
Pcm1 T A 8: 41,725,499 (GRCm39) probably null Het
Rfpl4b C A 10: 38,697,394 (GRCm39) C69F probably damaging Het
Tnn G A 1: 159,948,106 (GRCm39) T869I possibly damaging Het
Trp53i11 C A 2: 93,029,728 (GRCm39) L121I possibly damaging Het
Usp43 A T 11: 67,804,709 (GRCm39) N169K probably damaging Het
Vldlr A G 19: 27,217,243 (GRCm39) probably null Het
Vmn2r115 A G 17: 23,579,030 (GRCm39) I834M probably damaging Het
Zbtb21 A G 16: 97,751,698 (GRCm39) S690P possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Uimc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Uimc1 APN 13 55,182,724 (GRCm39) missense probably benign 0.05
IGL01655:Uimc1 APN 13 55,176,517 (GRCm39) missense probably benign 0.11
IGL01867:Uimc1 APN 13 55,223,214 (GRCm39) missense probably benign
IGL02512:Uimc1 APN 13 55,188,431 (GRCm39) missense possibly damaging 0.66
IGL02704:Uimc1 APN 13 55,178,772 (GRCm39) missense probably benign 0.01
PIT4382001:Uimc1 UTSW 13 55,178,828 (GRCm39) missense probably benign 0.00
PIT4486001:Uimc1 UTSW 13 55,223,381 (GRCm39) missense probably damaging 0.99
R0118:Uimc1 UTSW 13 55,233,457 (GRCm39) missense probably damaging 0.99
R0349:Uimc1 UTSW 13 55,223,804 (GRCm39) missense probably benign 0.11
R0441:Uimc1 UTSW 13 55,241,032 (GRCm39) missense probably damaging 1.00
R0634:Uimc1 UTSW 13 55,208,079 (GRCm39) missense possibly damaging 0.66
R0834:Uimc1 UTSW 13 55,224,222 (GRCm39) critical splice acceptor site probably null
R1175:Uimc1 UTSW 13 55,176,415 (GRCm39) missense possibly damaging 0.92
R2243:Uimc1 UTSW 13 55,198,552 (GRCm39) critical splice donor site probably null
R2566:Uimc1 UTSW 13 55,223,617 (GRCm39) missense probably damaging 1.00
R4435:Uimc1 UTSW 13 55,223,636 (GRCm39) missense probably damaging 0.96
R4622:Uimc1 UTSW 13 55,225,307 (GRCm39) missense probably damaging 1.00
R4935:Uimc1 UTSW 13 55,240,998 (GRCm39) missense probably damaging 0.97
R5140:Uimc1 UTSW 13 55,223,330 (GRCm39) missense probably damaging 1.00
R6395:Uimc1 UTSW 13 55,188,389 (GRCm39) missense possibly damaging 0.66
R6955:Uimc1 UTSW 13 55,188,359 (GRCm39) missense possibly damaging 0.86
R7040:Uimc1 UTSW 13 55,223,267 (GRCm39) splice site probably null
R7106:Uimc1 UTSW 13 55,198,628 (GRCm39) missense possibly damaging 0.83
R7505:Uimc1 UTSW 13 55,223,444 (GRCm39) missense probably damaging 1.00
R7864:Uimc1 UTSW 13 55,241,080 (GRCm39) nonsense probably null
R7872:Uimc1 UTSW 13 55,217,550 (GRCm39) missense possibly damaging 0.78
R8742:Uimc1 UTSW 13 55,240,971 (GRCm39) missense possibly damaging 0.92
R8969:Uimc1 UTSW 13 55,233,447 (GRCm39) missense possibly damaging 0.83
R9115:Uimc1 UTSW 13 55,198,584 (GRCm39) missense possibly damaging 0.92
R9228:Uimc1 UTSW 13 55,223,652 (GRCm39) missense probably damaging 0.96
R9424:Uimc1 UTSW 13 55,223,646 (GRCm39) missense possibly damaging 0.66
R9567:Uimc1 UTSW 13 55,188,427 (GRCm39) missense possibly damaging 0.66
RF009:Uimc1 UTSW 13 55,198,598 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CTGGGATAGGAAGGCATTGC -3'
(R):5'- GCCAAAGAACAGCTTTTCATAGC -3'

Sequencing Primer
(F):5'- GCATTGCCTAGACGTGTCC -3'
(R):5'- AACAAATTTGTCCTTAGCCCTAC -3'
Posted On 2016-10-06