Mutagenetix > Incidental Mutation

Incidental Mutation 'R6793:Ubfd1'

532696

Institutional Source

Beutler Lab

Gene Symbol

Ubfd1

Ensembl Gene

ENSMUSG00000030870

Gene Name

ubiquitin family domain containing 1

Synonyms

D7Wsu128e, D7Wsu105e

MMRRC Submission

044906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R6793 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121666398-121681417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121667103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 140 (V140A)

Ref Sequence

ENSEMBL: ENSMUSP00000033158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033158] [ENSMUST00000033159]

AlphaFold

Q78JW9

PDB Structure

Solution structure of the ubiquitin domain from mouse D7Wsu128e protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000033158
AA Change: V140A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033158
Gene: ENSMUSG00000030870
AA Change: V140A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
low complexity region	93	104	N/A	INTRINSIC
low complexity region	114	128	N/A	INTRINSIC
UBQ	145	214	8.34e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033159

SMART Domains

Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_1c	36	353	3.5e-88	PFAM
low complexity region	448	460	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153640

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,058,052 (GRCm39)	N19K	possibly damaging	Het
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Abraxas2	T	C	7: 132,476,563 (GRCm39)	I98T	probably damaging	Het
Ankrd17	G	A	5: 90,413,371 (GRCm39)	T1181I	probably damaging	Het
Bsn	T	A	9: 107,991,814 (GRCm39)	K1313*	probably null	Het
Chst4	A	T	8: 110,756,699 (GRCm39)	V388D	probably damaging	Het
Ckap5	T	G	2: 91,399,054 (GRCm39)	W613G	probably damaging	Het
Clock	GACTCACT	GACT	5: 76,384,967 (GRCm39)		probably null	Het
Enpp1	T	C	10: 24,531,723 (GRCm39)	D520G	probably damaging	Het
Epha3	T	C	16: 63,593,818 (GRCm39)	N90S	probably benign	Het
Esp36	A	T	17: 38,728,005 (GRCm39)	M92K	unknown	Het
Fam135a	A	G	1: 24,107,006 (GRCm39)	V44A	possibly damaging	Het
Fndc8	T	C	11: 82,788,412 (GRCm39)	S81P	probably damaging	Het
Fsip2	T	G	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gabrr1	T	G	4: 33,162,712 (GRCm39)	V426G	possibly damaging	Het
Igkv6-15	T	A	6: 70,383,976 (GRCm39)	M1L	probably benign	Het
Lrrc36	A	G	8: 106,185,065 (GRCm39)	E614G	probably damaging	Het
Man1a2	A	T	3: 100,539,913 (GRCm39)	I176K	possibly damaging	Het
Mapk4	T	A	18: 74,063,539 (GRCm39)	N561I	probably damaging	Het
Med15	A	T	16: 17,470,567 (GRCm39)		probably benign	Het
Mfsd2a	A	G	4: 122,844,498 (GRCm39)	V258A	probably benign	Het
Micu3	G	A	8: 40,833,736 (GRCm39)	V457I	probably damaging	Het
Mov10l1	T	A	15: 88,880,387 (GRCm39)	V291E	possibly damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ncbp1	T	C	4: 46,157,827 (GRCm39)	I355T	probably damaging	Het
Or51s1	A	G	7: 102,558,935 (GRCm39)	V37A	probably benign	Het
Or52ad1	T	C	7: 102,995,473 (GRCm39)	T221A	probably benign	Het
Otub2	A	G	12: 103,355,278 (GRCm39)		probably benign	Het
Pcdh15	T	C	10: 74,466,971 (GRCm39)	S1666P	probably damaging	Het
Pcdha12	T	A	18: 37,155,234 (GRCm39)	V651E	probably damaging	Het
Pomt1	T	C	2: 32,132,961 (GRCm39)	F186L	probably damaging	Het
Prl3d3	G	A	13: 27,345,044 (GRCm39)	A140T	probably benign	Het
Ptprn	G	A	1: 75,234,786 (GRCm39)	T267I	probably benign	Het
Qrfprl	C	T	6: 65,358,405 (GRCm39)	A43V	probably benign	Het
Rhbdd2	T	A	5: 135,665,008 (GRCm39)	I113N	probably damaging	Het
Saraf	T	A	8: 34,635,767 (GRCm39)		probably null	Het
Slc41a2	T	C	10: 83,137,022 (GRCm39)		probably null	Het
Slc47a1	A	G	11: 61,250,229 (GRCm39)	V352A	probably benign	Het
Tmem237	T	C	1: 59,153,375 (GRCm39)	T49A	probably benign	Het
Tmem273	A	C	14: 32,528,778 (GRCm39)	I48L	probably benign	Het
Tmprss11e	C	T	5: 86,863,414 (GRCm39)	C217Y	probably damaging	Het
Utrn	A	G	10: 12,516,669 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,574,844 (GRCm39)	I1028F	possibly damaging	Het
Virma	C	T	4: 11,539,968 (GRCm39)	T1479M	probably damaging	Het
Vwa7	G	T	17: 35,243,867 (GRCm39)	R767L	probably benign	Het
Wdfy3	A	T	5: 102,065,297 (GRCm39)	Y1290*	probably null	Het
Zfp970	G	A	2: 177,167,338 (GRCm39)	C304Y	probably damaging	Het

Other mutations in Ubfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Ubfd1	APN	7	121,677,695 (GRCm39)	missense	probably benign	0.04
IGL01677:Ubfd1	APN	7	121,670,922 (GRCm39)	splice site	probably benign
R0883:Ubfd1	UTSW	7	121,666,714 (GRCm39)	unclassified	probably benign
R2364:Ubfd1	UTSW	7	121,668,167 (GRCm39)	missense	probably benign	0.00
R3879:Ubfd1	UTSW	7	121,667,999 (GRCm39)	unclassified	probably benign
R3880:Ubfd1	UTSW	7	121,667,999 (GRCm39)	unclassified	probably benign
R3972:Ubfd1	UTSW	7	121,666,656 (GRCm39)	missense	probably benign
R4241:Ubfd1	UTSW	7	121,670,977 (GRCm39)	missense	possibly damaging	0.56
R5120:Ubfd1	UTSW	7	121,670,973 (GRCm39)	missense	probably damaging	1.00
R5276:Ubfd1	UTSW	7	121,668,091 (GRCm39)	missense	probably damaging	1.00
R7493:Ubfd1	UTSW	7	121,666,635 (GRCm39)	missense	probably benign	0.10
R7619:Ubfd1	UTSW	7	121,666,606 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACCCCTTTGCAGGCATG -3'
(R):5'- GTTTAGCACGACGTAAGCATCAAG -3'

Sequencing Primer
(F):5'- CCTTTGCAGGCATGGAGGAG -3'
(R):5'- CACGACGTAAGCATCAAGAGCTAG -3'

Posted On

2018-08-29