Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01677:Ubfd1'

103689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ubfd1

Ensembl Gene

ENSMUSG00000030870

Gene Name

ubiquitin family domain containing 1

Synonyms

D7Wsu128e, D7Wsu105e

Accession Numbers

Essential gene?

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

Stock #

IGL01677

Quality Score

Status

Chromosome

Chromosomal Location

121666398-121681417 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 121670922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q78JW9

Predicted Effect

probably benign
Transcript: ENSMUST00000033158

SMART Domains

Protein: ENSMUSP00000033158
Gene: ENSMUSG00000030870

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 38,129,700 (GRCm39)	M154L	probably benign	Het
Asph	T	C	4: 9,607,853 (GRCm39)	D131G	probably damaging	Het
Cdc45	G	A	16: 18,605,750 (GRCm39)	T429I	probably benign	Het
Cnga3	C	T	1: 37,283,999 (GRCm39)	R101*	probably null	Het
Cp	T	C	3: 20,020,598 (GRCm39)	I197T	probably damaging	Het
Cyp4b1	T	C	4: 115,493,479 (GRCm39)	D77G	probably damaging	Het
Dnah5	G	T	15: 28,367,928 (GRCm39)	W2771L	probably damaging	Het
Fas	G	A	19: 34,296,218 (GRCm39)	V177I	probably benign	Het
Gde1	A	G	7: 118,293,710 (GRCm39)		probably benign	Het
Hyou1	T	C	9: 44,293,309 (GRCm39)	S223P	probably benign	Het
Klre1	G	T	6: 129,559,006 (GRCm39)	G75C	probably damaging	Het
Lama1	T	C	17: 68,086,143 (GRCm39)	C1461R	probably benign	Het
Map3k7	T	C	4: 32,017,158 (GRCm39)		probably benign	Het
Mrpl18	A	T	17: 13,130,575 (GRCm39)	I178N	probably damaging	Het
Nckap1	T	C	2: 80,360,641 (GRCm39)	T503A	probably benign	Het
Or2n1	T	C	17: 38,486,766 (GRCm39)	S264P	probably damaging	Het
Or52n5	T	C	7: 104,587,852 (GRCm39)	S40P	probably benign	Het
Or52u1	T	C	7: 104,237,352 (GRCm39)	S114P	probably damaging	Het
Or7g28	T	C	9: 19,272,441 (GRCm39)	D70G	probably damaging	Het
Orc1	C	T	4: 108,461,782 (GRCm39)	T593I	probably damaging	Het
Phtf1	T	A	3: 103,906,099 (GRCm39)	S594T	probably damaging	Het
Ppp1r13b	A	T	12: 111,810,099 (GRCm39)	D78E	probably benign	Het
Proz	T	C	8: 13,115,238 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,779,793 (GRCm39)	Q292H	probably damaging	Het
Septin11	A	T	5: 93,296,392 (GRCm39)	T95S	probably damaging	Het
Slc12a1	A	G	2: 125,020,069 (GRCm39)		probably benign	Het
Slc45a3	T	A	1: 131,906,708 (GRCm39)	I394N	probably damaging	Het
Slc8a1	T	C	17: 81,956,036 (GRCm39)	H334R	probably damaging	Het
Sort1	T	C	3: 108,252,201 (GRCm39)	I466T	probably benign	Het
Susd2	A	T	10: 75,475,265 (GRCm39)	V515E	possibly damaging	Het
Ttll3	A	G	6: 113,389,945 (GRCm39)	R778G	probably benign	Het
Utrn	G	A	10: 12,619,901 (GRCm39)	T248M	probably damaging	Het
Vmn2r11	T	G	5: 109,201,823 (GRCm39)	D227A	possibly 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
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
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

Posted On

2014-01-21