Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:Usf2'

306461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Usf2

Ensembl Gene

ENSMUSG00000058239

Gene Name

upstream transcription factor 2

Synonyms

Usf-2, bHLHb12

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

30644673-30656228 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 30646417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 134 (C134*)

Ref Sequence

ENSEMBL: ENSMUSP00000132833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058860] [ENSMUST00000062620] [ENSMUST00000108119] [ENSMUST00000162228] [ENSMUST00000172417] [ENSMUST00000170699]

AlphaFold

Q64705

Predicted Effect

probably null
Transcript: ENSMUST00000058860
AA Change: C265*

SMART Domains

Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
AA Change: C265*

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	241	296	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000062620

SMART Domains

Protein: ENSMUSP00000055404
Gene: ENSMUSG00000050440

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Hepcidin	32	83	3.7e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108119
AA Change: C198*

SMART Domains

Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
AA Change: C198*

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	174	229	1.36e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162228
AA Change: C238*

SMART Domains

Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
AA Change: C238*

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
low complexity region	86	110	N/A	INTRINSIC
HLH	214	269	1.36e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169496

Predicted Effect

probably null
Transcript: ENSMUST00000170442
AA Change: C219*

SMART Domains

Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
AA Change: C219*

Domain	Start	End	E-Value	Type
low complexity region	41	65	N/A	INTRINSIC
HLH	196	243	1.83e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000172417
AA Change: C134*

SMART Domains

Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239
AA Change: C134*

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
HLH	110	165	1.36e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171338

Predicted Effect

probably benign
Transcript: ENSMUST00000170699

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mutants are 20-40% smaller at birth and > 50% die postnatally, possibly because they are unable to nurse. In survivors, a proportionate dwarfism is maintained into adulthood. Males are usually infertile and die before 6 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,970 (GRCm39)	D54V	probably damaging	Het
Adamts18	C	A	8: 114,440,976 (GRCm39)		probably benign	Het
Angptl3	T	A	4: 98,919,399 (GRCm39)	L53Q	probably damaging	Het
Apc	A	G	18: 34,447,588 (GRCm39)	T1461A	probably damaging	Het
Arl11	T	A	14: 61,548,535 (GRCm39)	V115D	probably damaging	Het
Cabp4	C	A	19: 4,188,560 (GRCm39)	V173L	possibly damaging	Het
Casq1	T	A	1: 172,042,672 (GRCm39)	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,824 (GRCm39)	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,944,239 (GRCm39)	Y1494C	probably benign	Het
Chd1	T	A	17: 15,951,069 (GRCm39)	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,169,049 (GRCm39)	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,737,910 (GRCm39)		probably benign	Het
Dido1	A	T	2: 180,303,716 (GRCm39)	L1396Q	probably benign	Het
Ermn	A	G	2: 57,937,824 (GRCm39)	I263T	probably damaging	Het
F12	T	A	13: 55,568,880 (GRCm39)	Q294L	possibly damaging	Het
Far2	A	T	6: 148,058,889 (GRCm39)	I192F	probably damaging	Het
Fshb	T	A	2: 106,889,218 (GRCm39)	I29F	probably damaging	Het
Gcgr	T	A	11: 120,427,811 (GRCm39)	Y251N	probably benign	Het
Gpr158	A	G	2: 21,831,890 (GRCm39)	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,093,613 (GRCm39)	V98A	probably damaging	Het
H2-T23	T	C	17: 36,342,580 (GRCm39)	E186G	probably damaging	Het
Khdrbs3	C	T	15: 68,896,685 (GRCm39)	T115I	probably benign	Het
Kifap3	C	T	1: 163,689,597 (GRCm39)	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,842,332 (GRCm39)	A512T	probably benign	Het
Mmp9	A	G	2: 164,791,235 (GRCm39)	D135G	probably benign	Het
Mylk	T	C	16: 34,784,016 (GRCm39)	V1394A	probably benign	Het
Nek9	A	C	12: 85,358,110 (GRCm39)		probably null	Het
Or51q1c	T	C	7: 103,652,866 (GRCm39)	I128T	probably damaging	Het
Or8k16	T	C	2: 85,520,402 (GRCm39)	S210P	probably damaging	Het
P2rx2	T	A	5: 110,490,276 (GRCm39)		probably benign	Het
P4htm	A	G	9: 108,456,977 (GRCm39)	L410P	probably damaging	Het
Pik3c2a	A	T	7: 115,963,748 (GRCm39)	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175 (GRCm39)	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,024,582 (GRCm39)		probably null	Het
Prss34	T	C	17: 25,518,251 (GRCm39)	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,758,110 (GRCm39)	T328A	probably benign	Het
Rab33b	A	T	3: 51,391,945 (GRCm39)	T65S	probably damaging	Het
Rdh8	A	G	9: 20,736,637 (GRCm39)	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,884,500 (GRCm39)	K6R	probably benign	Het
Sec24a	T	C	11: 51,587,560 (GRCm39)	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,055,509 (GRCm39)	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,774,612 (GRCm39)	M130L	probably benign	Het
Soat1	T	C	1: 156,274,145 (GRCm39)	I89V	probably benign	Het
St3gal5	A	G	6: 72,126,157 (GRCm39)	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,535,193 (GRCm39)		noncoding transcript	Het
Tacr2	A	G	10: 62,097,469 (GRCm39)		probably benign	Het
Tg	C	T	15: 66,606,435 (GRCm39)	T193I	probably benign	Het
Tnik	A	G	3: 28,596,179 (GRCm39)	T191A	probably damaging	Het
Trim27	T	C	13: 21,374,256 (GRCm39)		probably benign	Het
Usp14	A	G	18: 10,001,769 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,692,270 (GRCm39)	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,574 (GRCm39)	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,145 (GRCm39)	I657T	probably damaging	Het
Zfp935	A	T	13: 62,602,701 (GRCm39)	C166*	probably null	Het

Other mutations in Usf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02990:Usf2	APN	7	30,654,732 (GRCm39)	missense	probably benign
R0332:Usf2	UTSW	7	30,654,604 (GRCm39)	missense	possibly damaging	0.95
R0513:Usf2	UTSW	7	30,654,161 (GRCm39)	unclassified	probably benign
R1827:Usf2	UTSW	7	30,654,765 (GRCm39)	missense	probably damaging	0.96
R1946:Usf2	UTSW	7	30,655,663 (GRCm39)	missense	probably null
R2190:Usf2	UTSW	7	30,654,606 (GRCm39)	missense	probably damaging	1.00
R3783:Usf2	UTSW	7	30,655,256 (GRCm39)	missense	probably benign
R4744:Usf2	UTSW	7	30,654,197 (GRCm39)	missense	probably damaging	1.00
R6372:Usf2	UTSW	7	30,654,738 (GRCm39)	nonsense	probably null

Posted On

2015-04-16