Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Uimc1'

554710

Institutional Source

Beutler Lab

Gene Symbol

Uimc1

Ensembl Gene

ENSMUSG00000025878

Gene Name

ubiquitin interaction motif containing 1

Synonyms

D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55175693-55248113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55178828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 627 (D627G)

Ref Sequence

ENSEMBL: ENSMUSP00000026997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026997] [ENSMUST00000099496] [ENSMUST00000127195] [ENSMUST00000148702]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026997
AA Change: D627G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: D627G

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

unknown
Transcript: ENSMUST00000099496
AA Change: D346G

SMART Domains

Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: D346G

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

probably benign
Transcript: ENSMUST00000127195
AA Change: D627G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: D627G

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 benign
Transcript: ENSMUST00000148702

SMART Domains

Protein: ENSMUSP00000120935
Gene: ENSMUSG00000025878

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adam10	T	C	9: 70,673,363 (GRCm39)	L498P	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Mylk	C	T	16: 34,696,012 (GRCm39)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,400,355 (GRCm39)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,400,507 (GRCm39)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,887,841 (GRCm39)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	Het

Other mutations in Uimc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5466:Uimc1	UTSW	13	55,223,661 (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'- TAAATCTCAAAGACTGGCTGATTGGC -3'
(R):5'- GTTCCAGATATGGTGCTTTATTCTC -3'

Sequencing Primer
(F):5'- GGCTGATTGGCTCCAAAAATTCC -3'
(R):5'- ATGGTGCTTTATTCTCTTCATTACAG -3'

Posted On

2019-06-07