Mutagenetix > Incidental Mutation

Incidental Mutation 'R5662:Ubr7'

444151

Institutional Source

Beutler Lab

Gene Symbol

Ubr7

Ensembl Gene

ENSMUSG00000041712

Gene Name

ubiquitin protein ligase E3 component n-recognin 7 (putative)

Synonyms

5730410I19Rik

MMRRC Submission

043305-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R5662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102724234-102743960 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102734526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 267 (S267P)

Ref Sequence

ENSEMBL: ENSMUSP00000041247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046404]

AlphaFold

Q8BU04

Predicted Effect

probably benign
Transcript: ENSMUST00000046404
AA Change: S267P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000041247
Gene: ENSMUSG00000041712
AA Change: S267P

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Pfam:zf-UBR	45	113	2.4e-15	PFAM
PHD	134	186	1.78e-1	SMART
low complexity region	261	267	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221771

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,855 (GRCm39)	V1542D	possibly damaging	Het
Acsm4	T	G	7: 119,294,023 (GRCm39)	N131K	possibly damaging	Het
Ankrd54	A	G	15: 78,946,814 (GRCm39)	S62P	possibly damaging	Het
Ccdc186	A	G	19: 56,781,920 (GRCm39)	I753T	probably benign	Het
Cers2	C	T	3: 95,228,295 (GRCm39)	R112C	probably damaging	Het
Col6a4	C	G	9: 105,945,200 (GRCm39)	R971S	probably damaging	Het
Ctsf	T	C	19: 4,906,606 (GRCm39)	S178P	probably damaging	Het
Dennd4c	C	T	4: 86,713,525 (GRCm39)	T492I	probably benign	Het
Dhx8	A	G	11: 101,657,584 (GRCm39)	K1212E	possibly damaging	Het
Dnah8	A	G	17: 30,956,307 (GRCm39)	T2096A	probably damaging	Het
Ephb4	A	T	5: 137,370,457 (GRCm39)	I886F	probably damaging	Het
Eprs1	T	G	1: 185,126,622 (GRCm39)	N519K	possibly damaging	Het
Fam3c	T	C	6: 22,355,061 (GRCm39)		probably benign	Het
Galnt17	G	A	5: 131,114,844 (GRCm39)	R219C	probably damaging	Het
Gm10645	A	G	8: 83,892,486 (GRCm39)		probably benign	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Hydin	T	G	8: 111,307,341 (GRCm39)	S3907A	probably benign	Het
Ighv1-49	A	T	12: 115,019,027 (GRCm39)	V56E	probably damaging	Het
Igtp	A	G	11: 58,097,105 (GRCm39)	D92G	probably damaging	Het
Itga1	C	T	13: 115,122,707 (GRCm39)	V750I	probably benign	Het
Katnip	A	G	7: 125,441,875 (GRCm39)	R595G	probably benign	Het
Kif3c	T	A	12: 3,417,031 (GRCm39)	Y351N	probably damaging	Het
Klhdc1	T	A	12: 69,329,939 (GRCm39)	I356N	probably benign	Het
Lrrc34	T	C	3: 30,685,473 (GRCm39)	Y292C	probably benign	Het
Ly75	G	A	2: 60,182,725 (GRCm39)	T526M	probably damaging	Het
Mroh4	A	T	15: 74,497,277 (GRCm39)	D181E	possibly damaging	Het
Nutm1	T	C	2: 112,079,645 (GRCm39)	N757D	probably benign	Het
Or1e25	T	C	11: 73,494,005 (GRCm39)	F200L	probably benign	Het
Or1m1	A	G	9: 18,666,896 (GRCm39)	F12L	probably damaging	Het
Or6c215	T	C	10: 129,638,176 (GRCm39)	T73A	possibly damaging	Het
Or9s18	T	C	13: 65,300,067 (GRCm39)	F10L	possibly damaging	Het
Paxbp1	G	A	16: 90,834,285 (GRCm39)	T167M	probably benign	Het
Pnpla7	A	G	2: 24,942,396 (GRCm39)	D1238G	probably damaging	Het
Pom121l2	T	C	13: 22,166,358 (GRCm39)	S210P	probably benign	Het
Ripor3	T	G	2: 167,835,476 (GRCm39)	N165T	probably benign	Het
Serpine3	T	G	14: 62,908,291 (GRCm39)	S106R	probably benign	Het
Slc25a11	G	A	11: 70,536,245 (GRCm39)	R158*	probably null	Het
Slc26a6	G	A	9: 108,736,538 (GRCm39)	V506M	possibly damaging	Het
Slc45a2	A	G	15: 11,022,169 (GRCm39)	K304E	probably benign	Het
Slc4a4	C	T	5: 89,176,103 (GRCm39)	L25F	probably damaging	Het
Smarcb1	T	C	10: 75,740,404 (GRCm39)	N267S	possibly damaging	Het
Spink6	C	A	18: 44,207,481 (GRCm39)	Q24K	possibly damaging	Het
Srebf2	T	C	15: 82,079,204 (GRCm39)	S811P	probably benign	Het
Ssc4d	A	G	5: 135,989,748 (GRCm39)	*587R	probably null	Het
Sult2a8	C	T	7: 14,161,765 (GRCm39)	R27H	probably benign	Het
Sun2	C	T	15: 79,623,069 (GRCm39)	A90T	probably benign	Het
Wdr55	G	A	18: 36,893,448 (GRCm39)	V37M	possibly damaging	Het
Xdh	C	T	17: 74,248,110 (GRCm39)	G45S	probably damaging	Het
Zfp638	T	A	6: 83,920,111 (GRCm39)	S570T	probably damaging	Het

Other mutations in Ubr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02152:Ubr7	APN	12	102,734,535 (GRCm39)	nonsense	probably null
IGL02493:Ubr7	APN	12	102,734,479 (GRCm39)	missense	probably benign	0.00
IGL02750:Ubr7	APN	12	102,737,537 (GRCm39)	missense	possibly damaging	0.68
IGL03229:Ubr7	APN	12	102,735,414 (GRCm39)	missense	probably damaging	1.00
dwindled	UTSW	12	102,727,723 (GRCm39)	missense	probably damaging	1.00
Hair	UTSW	12	102,724,342 (GRCm39)	missense	probably damaging	0.98
Inch	UTSW	12	102,732,099 (GRCm39)	nonsense	probably null
R0519:Ubr7	UTSW	12	102,734,465 (GRCm39)	missense	probably benign	0.00
R0894:Ubr7	UTSW	12	102,735,450 (GRCm39)	missense	probably damaging	1.00
R1453:Ubr7	UTSW	12	102,735,437 (GRCm39)	missense	probably benign	0.00
R1598:Ubr7	UTSW	12	102,736,153 (GRCm39)	missense	probably damaging	1.00
R2201:Ubr7	UTSW	12	102,727,764 (GRCm39)	critical splice donor site	probably null
R4731:Ubr7	UTSW	12	102,735,485 (GRCm39)	missense	probably benign	0.03
R4834:Ubr7	UTSW	12	102,727,761 (GRCm39)	missense	probably damaging	1.00
R5222:Ubr7	UTSW	12	102,741,964 (GRCm39)	missense	probably benign	0.09
R5845:Ubr7	UTSW	12	102,732,571 (GRCm39)	missense	probably damaging	0.99
R5867:Ubr7	UTSW	12	102,727,753 (GRCm39)	missense	probably damaging	1.00
R6257:Ubr7	UTSW	12	102,732,099 (GRCm39)	nonsense	probably null
R6543:Ubr7	UTSW	12	102,734,494 (GRCm39)	missense	probably benign	0.01
R6601:Ubr7	UTSW	12	102,727,723 (GRCm39)	missense	probably damaging	1.00
R6849:Ubr7	UTSW	12	102,724,342 (GRCm39)	missense	probably damaging	0.98
R7330:Ubr7	UTSW	12	102,741,971 (GRCm39)	missense	probably damaging	0.99
R7576:Ubr7	UTSW	12	102,735,398 (GRCm39)	missense	probably damaging	1.00
R8256:Ubr7	UTSW	12	102,736,170 (GRCm39)	missense	probably damaging	1.00
R8334:Ubr7	UTSW	12	102,724,397 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTCTTGTTGAACCCAC -3'
(R):5'- GGGTACTAGAGAACTCAAACCC -3'

Sequencing Primer
(F):5'- CAGTCACCAGGATATCTGCTG -3'
(R):5'- TAGAGAACTCAAACCCTCATGCTTG -3'

Posted On

2016-11-09