Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Ubfd1'

403944

Institutional Source

Beutler Lab

Gene Symbol

Ubfd1

Ensembl Gene

ENSMUSG00000030870

Gene Name

ubiquitin family domain containing 1

Synonyms

D7Wsu128e, D7Wsu105e

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

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

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121666398-121681417 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121668091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 207 (A207V)

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 damaging
Transcript: ENSMUST00000033158
AA Change: A207V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033158
Gene: ENSMUSG00000030870
AA Change: A207V

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

noncoding transcript
Transcript: ENSMUST00000124733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147397

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151530

Predicted Effect

probably benign
Transcript: ENSMUST00000153640

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Entpd8	C	T	2: 24,975,057 (GRCm39)	R463W	probably benign	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mfn1	T	C	3: 32,618,354 (GRCm39)	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbfox3	T	C	11: 118,387,178 (GRCm39)	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,210,492 (GRCm39)	A82T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Tubb1	A	G	2: 174,299,217 (GRCm39)	M300V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	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
R6793:Ubfd1	UTSW	7	121,667,103 (GRCm39)	missense	probably benign
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'- GATGGACCAGTATTCACTTCCTG -3'
(R):5'- CATACATTTCCATCATGGGCCC -3'

Sequencing Primer
(F):5'- GGACCAGTATTCACTTCCTGTTTTG -3'
(R):5'- GAGCTTATTCTAGGGAGACTGTAACC -3'

Posted On

2016-07-22