Mutagenetix > Incidental Mutation

Incidental Mutation 'R7040:Uimc1'

547012

Institutional Source

Beutler Lab

Gene Symbol

Uimc1

Ensembl Gene

ENSMUSG00000025878

Gene Name

ubiquitin interaction motif containing 1

Synonyms

D330018D10Rik, D630032M02Rik, Rxrip110, 9430016E08Rik

MMRRC Submission

045013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R7040 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55027880-55100300 bp(-) (GRCm38)

Type of Mutation

splice site (1949 bp from exon)

DNA Base Change (assembly)

T to A at 55075454 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097095 (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: E335V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: E335V

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000099496

SMART Domains

Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878

Domain	Start	End	E-Value	Type
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: E335V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: E335V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000148702
AA Change: E335V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878
AA Change: E335V

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	G	7: 128,236,725	L232P	possibly damaging	Het
Acaa1a	T	C	9: 119,349,038	V312A	probably damaging	Het
Bmp2	A	G	2: 133,561,684	D385G	probably damaging	Het
C1qtnf9	T	C	14: 60,779,792	V257A	probably damaging	Het
Cd3d	G	A	9: 44,985,693	V122I	probably damaging	Het
Cdc37	T	C	9: 21,142,223	E199G	probably damaging	Het
Crb2	T	A	2: 37,787,684	D326E	probably benign	Het
Cyp2c29	A	C	19: 39,330,337	K420N	possibly damaging	Het
Cyp2g1	A	C	7: 26,820,759	D472A	probably damaging	Het
Dab2	A	C	15: 6,422,251	H116P	probably damaging	Het
Dnah7b	G	C	1: 46,236,809	E2619Q	probably benign	Het
Dsg4	A	T	18: 20,451,852	M208L	probably benign	Het
Eif4enif1	T	G	11: 3,234,040	V521G	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fpr-rs6	A	G	17: 20,182,934	M55T	probably damaging	Het
Grhpr	A	G	4: 44,985,362	S101G	probably damaging	Het
Kif15	T	A	9: 123,011,614	D33E	possibly damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Lama4	A	G	10: 39,060,162	Q611R	possibly damaging	Het
Lrrc47	T	A	4: 154,020,452	*123R	probably null	Het
Map4k3	A	C	17: 80,680,915	V36G	probably damaging	Het
Mme	T	A	3: 63,368,923	I707N	probably damaging	Het
Muc2	A	G	7: 141,751,457	E166G	unknown	Het
Mucl1	T	A	15: 103,753,578	T108S	possibly damaging	Het
Myo1h	A	T	5: 114,359,744	D53V	possibly damaging	Het
Naa15	T	A	3: 51,472,784	L811Q	possibly damaging	Het
Nalcn	T	C	14: 123,287,855	T1487A	probably benign	Het
Nme8	A	T	13: 19,694,328	L87H	probably damaging	Het
Nr2e1	A	G	10: 42,568,378	V245A	probably damaging	Het
Nt5c2	A	T	19: 46,893,535	F291Y	possibly damaging	Het
Olfr1337	T	C	4: 118,781,986	M200V	probably benign	Het
Olfr1508	T	C	14: 52,463,475	D178G	possibly damaging	Het
Olfr556	A	T	7: 102,670,730	Q270L	probably benign	Het
Olfr668	A	T	7: 104,925,510	C85S	probably benign	Het
Ooep	T	C	9: 78,378,401	N43S	possibly damaging	Het
Ovch2	A	T	7: 107,796,565	I82N	probably damaging	Het
Palb2	A	T	7: 122,114,399	M524K	possibly damaging	Het
Patj	T	C	4: 98,441,080	S524P	probably benign	Het
Patl1	T	A	19: 11,929,954	Y401N	possibly damaging	Het
Pcdhb20	A	T	18: 37,504,717	T99S	probably benign	Het
Plcb4	G	A	2: 135,932,262	A155T	probably benign	Het
Rpap3	A	G	15: 97,679,112	V585A	possibly damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spen	T	A	4: 141,494,382	T302S	unknown	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ube2o	T	C	11: 116,541,860	E760G	probably benign	Het
Usp16	C	T	16: 87,480,929	A689V	probably damaging	Het
Vmn2r60	G	A	7: 42,142,242	A530T	probably benign	Het
Vps8	T	A	16: 21,575,022	M1185K	probably damaging	Het
Vwa8	T	C	14: 78,912,205	S136P	probably damaging	Het
Ythdc2	A	G	18: 44,834,462	N175S	probably benign	Het
Zfp160	A	T	17: 21,026,532	H448L	probably damaging	Het
Zfp90	T	A	8: 106,425,009	C451*	probably null	Het
Zfp945	A	G	17: 22,852,290	C212R	probably damaging	Het

Other mutations in Uimc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Uimc1	APN	13	55034911	missense	probably benign	0.05
IGL01655:Uimc1	APN	13	55028704	missense	probably benign	0.11
IGL01867:Uimc1	APN	13	55075401	missense	probably benign
IGL02512:Uimc1	APN	13	55040618	missense	possibly damaging	0.66
IGL02704:Uimc1	APN	13	55030959	missense	probably benign	0.01
PIT4382001:Uimc1	UTSW	13	55031015	missense	probably benign	0.00
PIT4486001:Uimc1	UTSW	13	55075568	missense	probably damaging	0.99
R0118:Uimc1	UTSW	13	55085644	missense	probably damaging	0.99
R0349:Uimc1	UTSW	13	55075991	missense	probably benign	0.11
R0441:Uimc1	UTSW	13	55093219	missense	probably damaging	1.00
R0634:Uimc1	UTSW	13	55060266	missense	possibly damaging	0.66
R0834:Uimc1	UTSW	13	55076409	critical splice acceptor site	probably null
R1175:Uimc1	UTSW	13	55028602	missense	possibly damaging	0.92
R2243:Uimc1	UTSW	13	55050739	critical splice donor site	probably null
R2566:Uimc1	UTSW	13	55075804	missense	probably damaging	1.00
R4435:Uimc1	UTSW	13	55075823	missense	probably damaging	0.96
R4622:Uimc1	UTSW	13	55077494	missense	probably damaging	1.00
R4935:Uimc1	UTSW	13	55093185	missense	probably damaging	0.97
R5140:Uimc1	UTSW	13	55075517	missense	probably damaging	1.00
R5466:Uimc1	UTSW	13	55075848	missense	probably damaging	1.00
R6395:Uimc1	UTSW	13	55040576	missense	possibly damaging	0.66
R6955:Uimc1	UTSW	13	55040546	missense	possibly damaging	0.86
R7106:Uimc1	UTSW	13	55050815	missense	possibly damaging	0.83
R7505:Uimc1	UTSW	13	55075631	missense	probably damaging	1.00
R7864:Uimc1	UTSW	13	55093267	nonsense	probably null
R7872:Uimc1	UTSW	13	55069737	missense	possibly damaging	0.78
R8742:Uimc1	UTSW	13	55093158	missense	possibly damaging	0.92
R8969:Uimc1	UTSW	13	55085634	missense	possibly damaging	0.83
R9115:Uimc1	UTSW	13	55050771	missense	possibly damaging	0.92
R9228:Uimc1	UTSW	13	55075839	missense	probably damaging	0.96
R9424:Uimc1	UTSW	13	55075833	missense	possibly damaging	0.66
R9567:Uimc1	UTSW	13	55040614	missense	possibly damaging	0.66
RF009:Uimc1	UTSW	13	55050785	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CCACGACTGGTTGTTGGTTC -3'
(R):5'- ACAAAAGGTCTCCAGGACACTG -3'

Sequencing Primer
(F):5'- GGTTCTTCCTCCAACAAAAGTTTCTG -3'
(R):5'- ACTGTGCACTACTACTGGGG -3'

Posted On

2019-05-13