Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Uimc1'

608197

Institutional Source

Beutler Lab

Gene Symbol

Uimc1

Ensembl Gene

ENSMUSG00000025878

Gene Name

ubiquitin interaction motif containing 1

Synonyms

D630032M02Rik, 9430016E08Rik, Rxrip110, D330018D10Rik

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

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

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55175693-55248113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55217550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 424 (V424A)

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

possibly damaging
Transcript: ENSMUST00000026997
AA Change: V424A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026997
Gene: ENSMUSG00000025878
AA Change: V424A

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: ENSMUST00000099496
AA Change: V143A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097095
Gene: ENSMUSG00000025878
AA Change: V143A

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: V424A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122196
Gene: ENSMUSG00000025878
AA Change: V424A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,839 (GRCm39)	D290N	probably damaging	Het
Adam18	T	C	8: 25,101,116 (GRCm39)	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,989 (GRCm39)	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,572,807 (GRCm39)	K305I	probably damaging	Het
Atrn	T	A	2: 130,812,147 (GRCm39)		probably null	Het
Bambi	A	T	18: 3,511,406 (GRCm39)	T76S	probably benign	Het
Cacna1a	T	A	8: 85,310,283 (GRCm39)	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Clcn2	A	G	16: 20,527,210 (GRCm39)	M629T	probably damaging	Het
Clcn4	T	C	7: 7,290,780 (GRCm39)	N673S	probably benign	Het
Col20a1	T	C	2: 180,628,371 (GRCm39)	F15S	probably benign	Het
Col2a1	G	A	15: 97,898,458 (GRCm39)	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332 (GRCm39)	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,830 (GRCm39)	D556A	probably damaging	Het
Edar	C	T	10: 58,446,348 (GRCm39)	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,320,209 (GRCm39)	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699 (GRCm39)	V471I	not run	Het
Fer1l5	T	C	1: 36,460,967 (GRCm39)	F2032L	probably benign	Het
Gm5150	A	C	3: 16,060,485 (GRCm39)	M1R	probably null	Het
Grin1	T	C	2: 25,188,202 (GRCm39)	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,681,913 (GRCm39)		probably benign	Het
Il18bp	A	G	7: 101,666,002 (GRCm39)	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062 (GRCm39)	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,916,275 (GRCm39)	Y74H	probably damaging	Het
Kpna1	T	C	16: 35,843,565 (GRCm39)	V313A	probably benign	Het
Lrp4	C	T	2: 91,321,061 (GRCm39)	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,059,099 (GRCm39)	C3S	probably damaging	Het
Lyst	C	A	13: 13,810,450 (GRCm39)	H707N	probably benign	Het
Map3k20	A	G	2: 72,202,098 (GRCm39)	K148R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mocs1	T	A	17: 49,746,561 (GRCm39)	I177N	probably damaging	Het
Muc5b	A	G	7: 141,399,850 (GRCm39)	D441G	unknown	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Or12j4	A	G	7: 140,046,696 (GRCm39)	N194S	probably damaging	Het
Or51a39	A	G	7: 102,363,389 (GRCm39)	V77A	probably benign	Het
Padi6	A	T	4: 140,455,073 (GRCm39)	F621L	probably damaging	Het
Pde8b	C	A	13: 95,223,347 (GRCm39)	M197I	possibly damaging	Het
Pear1	T	A	3: 87,659,522 (GRCm39)	I771L	probably benign	Het
Poli	A	G	18: 70,655,891 (GRCm39)	L281P	probably damaging	Het
Prdm12	T	C	2: 31,530,231 (GRCm39)	W41R	probably damaging	Het
Prkdc	T	G	16: 15,532,870 (GRCm39)	S1500A	probably benign	Het
Prune2	T	A	19: 17,096,798 (GRCm39)	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,382,403 (GRCm39)	Q196*	probably null	Het
Rnpc3	A	T	3: 113,416,096 (GRCm39)	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724 (GRCm38)	M1V	probably null	Het
Ryr2	T	A	13: 11,610,610 (GRCm39)	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,102,765 (GRCm39)	H314R	probably damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc37a3	A	T	6: 39,324,244 (GRCm39)	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,536,837 (GRCm39)	H9Q	probably benign	Het
Tnrc6a	T	A	7: 122,779,057 (GRCm39)	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,910 (GRCm39)	N126S	probably damaging	Het
Tut4	T	G	4: 108,374,715 (GRCm39)	C933G	probably damaging	Het
Ubr4	T	C	4: 139,120,373 (GRCm39)	F266S	possibly damaging	Het
Utrn	T	C	10: 12,573,873 (GRCm39)	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,740,404 (GRCm39)	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,223,613 (GRCm39)	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 19,835,839 (GRCm39)	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,369,219 (GRCm39)	H118L	probably benign	Het
Zfp775	A	G	6: 48,597,404 (GRCm39)	K426R	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
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
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
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'- ACACGTTTGCAAACTTACAGC -3'
(R):5'- CCTTCCCCAAAGAAAGATAAATGTG -3'

Sequencing Primer
(F):5'- GCTAAAAATGATTTCCAATCTCAGC -3'
(R):5'- GTCTTCACAGAGCGAGACTC -3'

Posted On

2019-12-20