Mutagenetix > Incidental Mutation

Incidental Mutation 'R1946:Usf2'

216677

Institutional Source

Beutler Lab

Gene Symbol

Usf2

Ensembl Gene

ENSMUSG00000058239

Gene Name

upstream transcription factor 2

Synonyms

Usf-2, bHLHb12

MMRRC Submission

039964-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.774) question?

Stock #

R1946 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

30644673-30656228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30655663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1 (T1A)

Gene Model

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

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: T47A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132256
Gene: ENSMUSG00000058239
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132021
Gene: ENSMUSG00000058239
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125520
Gene: ENSMUSG00000058239
AA Change: T47A

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: ENSMUST00000172417
AA Change: T47A

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132833
Gene: ENSMUSG00000058239
AA Change: T47A

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

Predicted Effect

probably null
Transcript: ENSMUST00000170442
AA Change: T1A

SMART Domains

Protein: ENSMUSP00000130298
Gene: ENSMUSG00000058239
AA Change: T1A

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: ENSMUST00000168731

Predicted Effect

probably benign
Transcript: ENSMUST00000205961

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181395

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167285

Predicted Effect

probably benign
Transcript: ENSMUST00000170699

Predicted Effect

probably benign
Transcript: ENSMUST00000166340

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,039,551 (GRCm39)	S253P	probably damaging	Het
Adamts5	C	A	16: 85,696,131 (GRCm39)	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,522,368 (GRCm39)	C5923Y	probably damaging	Het
Aen	G	C	7: 78,552,420 (GRCm39)	E32Q	probably damaging	Het
Apba2	T	C	7: 64,394,378 (GRCm39)		probably null	Het
Arhgap44	A	G	11: 64,902,922 (GRCm39)	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,059,443 (GRCm39)	T56A	probably null	Het
Atoh1	T	C	6: 64,706,443 (GRCm39)	V46A	probably benign	Het
Bmpr2	T	C	1: 59,907,556 (GRCm39)	V883A	possibly damaging	Het
Bpifa1	A	T	2: 153,987,554 (GRCm39)	I135F	probably damaging	Het
Bsn	A	G	9: 107,991,850 (GRCm39)	F1301L	probably damaging	Het
Capn13	T	C	17: 73,657,520 (GRCm39)	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,376,861 (GRCm39)	E1434G	probably damaging	Het
Coq8b	G	A	7: 26,939,299 (GRCm39)	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,944,957 (GRCm39)	T450M	probably benign	Het
Dlg4	A	G	11: 69,930,401 (GRCm39)	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,931,359 (GRCm39)	T1458K	probably benign	Het
Dock5	A	T	14: 68,023,765 (GRCm39)	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,713,605 (GRCm39)	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,469,440 (GRCm39)		noncoding transcript	Het
Fndc11	A	T	2: 180,863,627 (GRCm39)	D144V	probably benign	Het
Fut2	A	G	7: 45,300,748 (GRCm39)	F8S	probably damaging	Het
Gad2	A	T	2: 22,575,440 (GRCm39)	T515S	probably benign	Het
Ganab	T	A	19: 8,888,172 (GRCm39)	D439E	probably damaging	Het
Gm10228	C	A	16: 88,838,241 (GRCm39)	G21V	unknown	Het
Grm3	A	G	5: 9,562,123 (GRCm39)	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,774,629 (GRCm39)	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,295,647 (GRCm39)	S2619P	probably damaging	Het
Kcnq2	T	A	2: 180,730,244 (GRCm39)	D446V	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kmt2c	A	T	5: 25,520,152 (GRCm39)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,499,540 (GRCm39)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,555,159 (GRCm39)	D320V	unknown	Het
Lrrcc1	A	G	3: 14,615,453 (GRCm39)	R394G	probably benign	Het
Lrrk2	G	A	15: 91,620,864 (GRCm39)		probably null	Het
Map4k5	A	T	12: 69,892,529 (GRCm39)	D133E	probably damaging	Het
Megf11	A	T	9: 64,586,558 (GRCm39)	D461V	probably damaging	Het
Msrb3	A	G	10: 120,687,913 (GRCm39)	V54A	probably damaging	Het
Muc21	A	T	17: 35,933,416 (GRCm39)		probably benign	Het
Ncoa3	T	A	2: 165,901,097 (GRCm39)	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,111,476 (GRCm39)	T1314I	probably damaging	Het
Nes	A	G	3: 87,885,821 (GRCm39)	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,434,295 (GRCm39)	Q285P	probably damaging	Het
Nkd1	C	T	8: 89,318,745 (GRCm39)	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,323,672 (GRCm39)	I355N	probably benign	Het
Or10ak11	T	C	4: 118,687,223 (GRCm39)	N139S	probably benign	Het
Or1n1b	A	T	2: 36,780,458 (GRCm39)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,487 (GRCm39)	S167P	probably benign	Het
Or5b3	T	C	19: 13,388,143 (GRCm39)	V70A	possibly damaging	Het
Or7a38	T	A	10: 78,752,758 (GRCm39)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,314,182 (GRCm39)	M1K	probably null	Het
Otx1	G	T	11: 21,948,482 (GRCm39)	T46K	probably damaging	Het
Panx1	A	G	9: 14,918,822 (GRCm39)	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,611,952 (GRCm39)	L304*	probably null	Het
Plet1	A	G	9: 50,415,652 (GRCm39)		probably null	Het
Plod2	A	G	9: 92,489,188 (GRCm39)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,365,889 (GRCm39)	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,820,008 (GRCm39)	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,470,196 (GRCm39)	D19G	probably damaging	Het
Pramel31	T	A	4: 144,088,435 (GRCm39)	V77E	probably benign	Het
Rimbp3	G	A	16: 17,028,291 (GRCm39)	V572I	probably benign	Het
Ror2	T	C	13: 53,285,885 (GRCm39)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,147,043 (GRCm39)	H667L	probably benign	Het
Sema3d	A	G	5: 12,623,810 (GRCm39)	Q573R	probably damaging	Het
Snx19	T	A	9: 30,343,620 (GRCm39)	N593K	probably damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Syngr3	T	C	17: 24,906,680 (GRCm39)	N45S	probably benign	Het
Tenm4	A	T	7: 96,385,015 (GRCm39)	H524L	probably damaging	Het
Tex30	C	T	1: 44,130,564 (GRCm39)	G68D	probably damaging	Het
Tmem43	A	T	6: 91,463,891 (GRCm39)	I389F	probably benign	Het
Trpm1	A	T	7: 63,873,556 (GRCm39)	N488Y	probably damaging	Het
Vill	A	T	9: 118,887,560 (GRCm39)	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,299,885 (GRCm39)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,272,815 (GRCm39)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,231,133 (GRCm39)	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,147,476 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTACGCGGTATGTCACCTG -3'
(R):5'- TCTGGGCCCGGCTCAAAAT -3'

Sequencing Primer
(F):5'- TATGTCACCTGCAGGGGG -3'
(R):5'- GCTCAAAATGGAGGCCGC -3'

Posted On

2014-08-01