Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02990:Usf2'

406880

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: 0.801) question?

Stock #

IGL02990

Quality Score

Status

Chromosome

Chromosomal Location

30644673-30656228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30654732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 161 (Q161P)

Ref Sequence

ENSEMBL: ENSMUSP00000125520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001279] [ENSMUST00000058860] [ENSMUST00000098553] [ENSMUST00000108116] [ENSMUST00000108119] [ENSMUST00000147431] [ENSMUST00000162228] [ENSMUST00000170699] [ENSMUST00000205961] [ENSMUST00000172417]

AlphaFold

Q64705

Predicted Effect

probably benign
Transcript: ENSMUST00000001279

SMART Domains

Protein: ENSMUSP00000001279
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	206	253	9.6e-27	PFAM
low complexity region	280	296	N/A	INTRINSIC
low complexity region	445	464	N/A	INTRINSIC
low complexity region	468	487	N/A	INTRINSIC
low complexity region	496	513	N/A	INTRINSIC
low complexity region	544	558	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058860
AA Change: Q188P

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

SMART Domains

Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
AA Change: Q188P

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: ENSMUST00000098553

SMART Domains

Protein: ENSMUSP00000096153
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
low complexity region	212	228	N/A	INTRINSIC
low complexity region	377	396	N/A	INTRINSIC
low complexity region	400	419	N/A	INTRINSIC
low complexity region	428	445	N/A	INTRINSIC
low complexity region	476	490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108116

SMART Domains

Protein: ENSMUSP00000103751
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
IG	43	186	1.23e-3	SMART
Pfam:LSR	187	235	2.3e-25	PFAM
low complexity region	261	277	N/A	INTRINSIC
low complexity region	426	445	N/A	INTRINSIC
low complexity region	449	468	N/A	INTRINSIC
low complexity region	477	494	N/A	INTRINSIC
low complexity region	525	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108119
AA Change: Q121P

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

SMART Domains

Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
AA Change: Q121P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133179

Predicted Effect

probably benign
Transcript: ENSMUST00000147431

SMART Domains

Protein: ENSMUSP00000123487
Gene: ENSMUSG00000001247

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
low complexity region	253	272	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162228
AA Change: Q161P

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

SMART Domains

Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
AA Change: Q161P

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

silent
Transcript: ENSMUST00000170699

Predicted Effect

unknown
Transcript: ENSMUST00000170442
AA Change: Q142P

SMART Domains

Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
AA Change: Q142P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167285

Predicted Effect

probably benign
Transcript: ENSMUST00000205961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171338

Predicted Effect

probably benign
Transcript: ENSMUST00000166340

Predicted Effect

probably benign
Transcript: ENSMUST00000172417

SMART Domains

Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	T	11: 69,054,032 (GRCm39)	V205F	probably benign	Het
Ampd3	T	C	7: 110,407,170 (GRCm39)		probably benign	Het
Arhgef18	G	A	8: 3,494,904 (GRCm39)	V388I	probably benign	Het
Atp6v1c2	C	T	12: 17,344,741 (GRCm39)	V169I	probably damaging	Het
Ccdc88b	G	T	19: 6,824,777 (GRCm39)	L1328I	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cluh	G	A	11: 74,558,591 (GRCm39)		probably null	Het
Cpsf7	C	A	19: 10,509,159 (GRCm39)	N23K	probably benign	Het
Cyp4x1	A	T	4: 114,978,946 (GRCm39)	F191L	probably benign	Het
Dcn	A	G	10: 97,345,835 (GRCm39)	T216A	probably benign	Het
Drosha	C	T	15: 12,827,353 (GRCm39)		probably benign	Het
Foxn4	A	G	5: 114,411,050 (GRCm39)	S24P	probably damaging	Het
Gm11733	A	T	11: 117,377,809 (GRCm39)		probably null	Het
Hapln1	A	C	13: 89,749,725 (GRCm39)	Y90S	probably benign	Het
Igf2r	C	A	17: 12,929,633 (GRCm39)		probably benign	Het
Jade2	A	G	11: 51,722,074 (GRCm39)		probably benign	Het
Kcnh7	A	T	2: 62,536,330 (GRCm39)	L1084H	probably benign	Het
Kif1a	T	C	1: 92,966,985 (GRCm39)	D1155G	probably damaging	Het
Llgl2	A	G	11: 115,745,159 (GRCm39)	M958V	probably benign	Het
Lrp2	A	G	2: 69,271,740 (GRCm39)	V4064A	possibly damaging	Het
Mau2	A	G	8: 70,474,905 (GRCm39)		probably benign	Het
Mllt10	T	C	2: 18,128,522 (GRCm39)		probably benign	Het
Myo15a	A	G	11: 60,370,266 (GRCm39)	T1009A	probably benign	Het
Myo6	T	C	9: 80,183,685 (GRCm39)		probably null	Het
Neil2	G	T	14: 63,429,258 (GRCm39)	H12N	possibly damaging	Het
Nrde2	T	C	12: 100,108,355 (GRCm39)	E412G	probably damaging	Het
Or14j3	C	T	17: 37,900,559 (GRCm39)	M228I	probably benign	Het
Or4c115	T	C	2: 88,927,473 (GRCm39)	Y266C	possibly damaging	Het
Patl2	T	G	2: 121,954,978 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,593,187 (GRCm39)	H1642R	possibly damaging	Het
Ppp6r1	A	G	7: 4,646,022 (GRCm39)	I199T	possibly damaging	Het
Prom2	T	A	2: 127,370,734 (GRCm39)	T817S	probably benign	Het
Slc49a4	C	A	16: 35,555,861 (GRCm39)	V200F	possibly damaging	Het
Slc9b1	A	G	3: 135,100,744 (GRCm39)		probably null	Het
Sv2c	A	T	13: 96,224,886 (GRCm39)	I141K	probably damaging	Het
Tas2r139	A	T	6: 42,118,038 (GRCm39)	I57F	probably damaging	Het
Tep1	A	G	14: 51,105,703 (GRCm39)	S106P	possibly damaging	Het
Tnni3k	T	C	3: 154,663,395 (GRCm39)	D319G	probably benign	Het
Tom1l2	C	T	11: 60,121,062 (GRCm39)	D461N	probably damaging	Het
Ugt1a10	T	C	1: 87,983,601 (GRCm39)	L133S	probably damaging	Het
Vmn1r15	A	G	6: 57,235,593 (GRCm39)	T154A	probably benign	Het
Vmn2r95	C	A	17: 18,672,298 (GRCm39)	Y678*	probably null	Het

Other mutations in Usf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02756:Usf2	APN	7	30,646,417 (GRCm39)	nonsense	probably null
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

2016-08-02