Mutagenetix > Incidental Mutation

Incidental Mutation 'R1896:Utf1'

211987

Institutional Source

Beutler Lab

Gene Symbol

Utf1

Ensembl Gene

ENSMUSG00000047751

Gene Name

undifferentiated embryonic cell transcription factor 1

Synonyms

MMRRC Submission

039916-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R1896 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

139523769-139525025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 139524213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 143 (L143I)

Ref Sequence

ENSEMBL: ENSMUSP00000128848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053445] [ENSMUST00000168457]

AlphaFold

Q6J1H4

Predicted Effect

probably benign
Transcript: ENSMUST00000053445

SMART Domains

Protein: ENSMUSP00000050586
Gene: ENSMUSG00000066129

Domain	Start	End	E-Value	Type
KIND	37	217	4.66e-65	SMART
Blast:KIND	381	454	2e-10	BLAST
KIND	456	620	1.22e-50	SMART
low complexity region	658	670	N/A	INTRINSIC
low complexity region	755	771	N/A	INTRINSIC
low complexity region	792	801	N/A	INTRINSIC
low complexity region	949	965	N/A	INTRINSIC
coiled coil region	1121	1151	N/A	INTRINSIC
Pfam:RasGEF_N	1242	1341	2.2e-17	PFAM
Pfam:RasGEF	1464	1672	3.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156941

Predicted Effect

probably damaging
Transcript: ENSMUST00000168457
AA Change: L143I

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128848
Gene: ENSMUSG00000047751
AA Change: L143I

Domain	Start	End	E-Value	Type
low complexity region	2	21	N/A	INTRINSIC
Pfam:Myb_DNA-bind_4	60	139	1e-9	PFAM
low complexity region	156	194	N/A	INTRINSIC
low complexity region	218	231	N/A	INTRINSIC
SCOP:d1e7la2	246	314	1e-2	SMART

Meta Mutation Damage Score

0.0845

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a leucine zipper-containing transcriptional coactivator that may link the upstream activator ATF2 with the basal transcription complex. The encoded protein is closely associated with chromatin and is required for the proper differentiation of embryonic carcinoma and embryonic stem cells. Found nearly exclusively in pluripotent cells, this protein can also serve as a transcriptional repressor. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation and background sensitive neo- and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	C	A	2: 26,733,609 (GRCm39)	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,170,306 (GRCm39)	V277G	probably damaging	Het
Adam23	G	A	1: 63,584,731 (GRCm39)	A380T	probably benign	Het
Art2b	A	G	7: 101,229,236 (GRCm39)	V221A	probably benign	Het
Bcam	A	G	7: 19,500,640 (GRCm39)	S153P	probably damaging	Het
Bltp1	C	T	3: 36,962,380 (GRCm39)	Q494*	probably null	Het
C1qtnf1	G	T	11: 118,334,583 (GRCm39)	G21V	probably damaging	Het
Car13	T	C	3: 14,710,235 (GRCm39)	I59T	probably benign	Het
Cep97	T	C	16: 55,748,107 (GRCm39)	N108D	probably damaging	Het
Cog3	T	A	14: 75,979,784 (GRCm39)	E182D	probably benign	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Endou	A	G	15: 97,610,873 (GRCm39)	Y404H	probably damaging	Het
F12	T	C	13: 55,568,540 (GRCm39)	Y373C	probably damaging	Het
Fam221b	T	C	4: 43,660,375 (GRCm39)	T405A	probably damaging	Het
Fetub	A	G	16: 22,751,045 (GRCm39)	R131G	probably damaging	Het
Foxp2	A	T	6: 15,379,767 (GRCm39)		probably benign	Het
Ggt5	T	C	10: 75,440,560 (GRCm39)	V227A	probably damaging	Het
Gipr	A	G	7: 18,897,996 (GRCm39)	S79P	probably benign	Het
Gphn	A	G	12: 78,459,128 (GRCm39)	D72G	possibly damaging	Het
Gzmk	A	G	13: 113,309,427 (GRCm39)	S208P	probably damaging	Het
Itpkc	T	C	7: 26,907,805 (GRCm39)	D633G	probably damaging	Het
Jarid2	T	C	13: 45,038,358 (GRCm39)		probably null	Het
Kif21b	C	A	1: 136,075,583 (GRCm39)	R237S	possibly damaging	Het
Lama1	G	A	17: 68,098,218 (GRCm39)	R1805H	probably benign	Het
Lpin3	C	T	2: 160,747,218 (GRCm39)	P815S	probably damaging	Het
Lrp1	T	A	10: 127,395,867 (GRCm39)	I2468F	possibly damaging	Het
Nav1	T	C	1: 135,388,475 (GRCm39)	N1118S	probably benign	Het
Ncoa3	T	A	2: 165,890,384 (GRCm39)	I90N	probably benign	Het
Notch3	T	C	17: 32,362,402 (GRCm39)	T1408A	probably benign	Het
Nwd2	A	G	5: 63,962,753 (GRCm39)	D779G	probably benign	Het
Obox6	A	T	7: 15,568,770 (GRCm39)	H35Q	possibly damaging	Het
Pkd1l3	C	A	8: 110,350,831 (GRCm39)	P559T	possibly damaging	Het
Pou2af2	A	G	9: 51,203,098 (GRCm39)	S19P	probably damaging	Het
Pramel23	C	G	4: 143,424,714 (GRCm39)	G243A	probably benign	Het
Prex1	T	A	2: 166,428,574 (GRCm39)	I716F	probably benign	Het
Psap	C	T	10: 60,130,826 (GRCm39)	Q219*	probably null	Het
Rab5if	C	T	2: 156,707,252 (GRCm39)	P64S	probably damaging	Het
Shisa5	T	A	9: 108,885,108 (GRCm39)	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,414,931 (GRCm39)	L21P	probably benign	Het
Slc4a4	A	G	5: 89,194,167 (GRCm39)	T172A	probably damaging	Het
Sned1	C	T	1: 93,192,769 (GRCm39)	P352L	probably benign	Het
Sox4	T	C	13: 29,136,127 (GRCm39)	Y293C	probably damaging	Het
Srgap3	T	A	6: 112,715,958 (GRCm39)	H654L	probably benign	Het
Stra6	A	T	9: 58,059,166 (GRCm39)	M510L	probably benign	Het
Syna	C	A	5: 134,588,006 (GRCm39)	M314I	probably benign	Het
Taf5l	A	G	8: 124,730,152 (GRCm39)	L144P	probably damaging	Het
Tll2	A	G	19: 41,101,498 (GRCm39)	F379L	probably benign	Het
Traf3ip3	A	G	1: 192,858,042 (GRCm39)	V492A	probably benign	Het
Uba2	A	G	7: 33,850,455 (GRCm39)	F364S	probably damaging	Het
Unc50	T	A	1: 37,476,323 (GRCm39)	L161Q	probably damaging	Het
Ush2a	T	C	1: 188,282,206 (GRCm39)	V1907A	probably benign	Het
Uso1	A	T	5: 92,348,992 (GRCm39)		probably null	Het
Vmn1r158	C	T	7: 22,490,143 (GRCm39)	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,693,756 (GRCm39)	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,258,055 (GRCm39)	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,973,778 (GRCm39)	R335L	probably damaging	Het
Zbtb26	A	G	2: 37,326,347 (GRCm39)	S230P	possibly damaging	Het
Zfp74	A	T	7: 29,634,569 (GRCm39)	C380S	probably damaging	Het
Zfyve1	A	C	12: 83,602,388 (GRCm39)	V469G	probably damaging	Het

Other mutations in Utf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02510:Utf1	APN	7	139,523,929 (GRCm39)	nonsense	probably null
IGL02988:Utf1	UTSW	7	139,523,875 (GRCm39)	missense	possibly damaging	0.92
R1813:Utf1	UTSW	7	139,524,213 (GRCm39)	missense	probably damaging	0.96
R2079:Utf1	UTSW	7	139,524,808 (GRCm39)	nonsense	probably null
R2176:Utf1	UTSW	7	139,523,920 (GRCm39)	missense	possibly damaging	0.92
R5052:Utf1	UTSW	7	139,524,814 (GRCm39)	unclassified	probably benign
R5554:Utf1	UTSW	7	139,523,859 (GRCm39)	missense	probably benign
R5754:Utf1	UTSW	7	139,524,704 (GRCm39)	unclassified	probably benign
R7503:Utf1	UTSW	7	139,524,046 (GRCm39)	missense	probably damaging	0.99
R7910:Utf1	UTSW	7	139,524,704 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGACGGAGCTACTTCTGG -3'
(R):5'- GAACTGAATCTGAGCGCAGG -3'

Sequencing Primer
(F):5'- ATGTGGCGCTCACTACTG -3'
(R):5'- GCAGGTTCGTCATTTTCCGCAG -3'

Posted On

2014-06-30