Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:Tfcp2'

704423

Institutional Source

Beutler Lab

Gene Symbol

Tfcp2

Ensembl Gene

ENSMUSG00000009733

Gene Name

transcription factor CP2

Synonyms

LBP1, LSF, LBP-1c, LBP-1d, CP-2, UBP-1, Tcfcp2, CP2, D230015P20Rik

MMRRC Submission

068991-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100395893-100449889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100411934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 346 (T346A)

Ref Sequence

ENSEMBL: ENSMUSP00000009877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000229581] [ENSMUST00000229696]

AlphaFold

Q9ERA0

Predicted Effect

probably benign
Transcript: ENSMUST00000009877
AA Change: T346A

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

SMART Domains

Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: T346A

Domain	Start	End	E-Value	Type
Pfam:CP2	44	260	8.6e-60	PFAM
low complexity region	287	302	N/A	INTRINSIC
low complexity region	404	415	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229581
AA Change: T346A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000229696
AA Change: T346A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000231174

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimer's disease. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no apparent alterations in overall behavior, hematopoiesis, globin chain synthesis, or immunological function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,839 (GRCm39)	S343P	possibly damaging	Het
4930563M21Rik	T	A	9: 55,916,568 (GRCm39)	E36D	unknown	Het
Abcc8	T	G	7: 45,756,092 (GRCm39)	K1450T	probably benign	Het
Aox1	A	T	1: 58,361,953 (GRCm39)	N720Y	possibly damaging	Het
BC034090	T	C	1: 155,101,518 (GRCm39)	T249A	probably benign	Het
Brf2	A	T	8: 27,614,021 (GRCm39)	S388R	probably damaging	Het
Ccdc180	A	T	4: 45,944,461 (GRCm39)	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,734,025 (GRCm39)	D375A	probably benign	Het
Cep85l	T	C	10: 53,174,282 (GRCm39)	Y487C	probably damaging	Het
Cfap299	C	T	5: 98,646,162 (GRCm39)	A86V	probably benign	Het
Chd3	C	T	11: 69,244,027 (GRCm39)	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,603,446 (GRCm39)	R793S	possibly damaging	Het
Crat	A	G	2: 30,298,214 (GRCm39)	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,711,187 (GRCm39)	V495L	probably benign	Het
Dchs2	C	T	3: 83,189,361 (GRCm39)	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,462,994 (GRCm39)	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,495,016 (GRCm39)	A109V	probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fry	T	C	5: 150,419,297 (GRCm39)	S546P		Het
Hfe	T	C	13: 23,890,792 (GRCm39)	K204E	probably benign	Het
Hibch	T	A	1: 52,952,986 (GRCm39)	Y329N	probably damaging	Het
Irf9	T	G	14: 55,846,247 (GRCm39)	I426S	probably damaging	Het
Kif26a	C	A	12: 112,112,835 (GRCm39)	P13T	probably damaging	Het
Lhx5	A	C	5: 120,570,451 (GRCm39)	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579 (GRCm39)	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Mybl2	G	A	2: 162,910,135 (GRCm39)	G187E	probably damaging	Het
Myh1	A	T	11: 67,099,929 (GRCm39)	Q613L	probably benign	Het
Myo5a	T	A	9: 75,087,312 (GRCm39)	M1056K	probably benign	Het
Or1e16	T	C	11: 73,285,955 (GRCm39)	K298E	probably damaging	Het
Or4a27	G	A	2: 88,559,799 (GRCm39)	T48I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or8b3b	T	C	9: 38,584,414 (GRCm39)	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,900,940 (GRCm39)	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,401,116 (GRCm39)	S161P	probably damaging	Het
Pmfbp1	A	G	8: 110,263,205 (GRCm39)	T775A	probably benign	Het
Pou3f3	T	C	1: 42,736,682 (GRCm39)	V126A	unknown	Het
Reg4	A	C	3: 98,143,631 (GRCm39)	K142Q	possibly damaging	Het
Rimoc1	T	C	15: 4,021,336 (GRCm39)	D73G	probably damaging	Het
Sec22c	G	T	9: 121,517,314 (GRCm39)	A199E	probably damaging	Het
Sema3d	C	T	5: 12,603,181 (GRCm39)	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,260,893 (GRCm39)	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,105,616 (GRCm39)	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,405,200 (GRCm39)	D194V	probably damaging	Het
Stoml3	T	C	3: 53,408,185 (GRCm39)	V77A	possibly damaging	Het
Taco1	A	G	11: 105,963,930 (GRCm39)	I230V	probably benign	Het
Tmem8b	C	T	4: 43,686,188 (GRCm39)	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,876,299 (GRCm39)	N73S	probably benign	Het
Trav6d-5	A	G	14: 53,033,060 (GRCm39)	D103G	probably damaging	Het
Ttll5	T	A	12: 85,937,806 (GRCm39)	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,803,846 (GRCm39)		probably benign	Het
Ubr3	A	C	2: 69,727,769 (GRCm39)	D44A	probably benign	Het
Upp2	G	T	2: 58,457,443 (GRCm39)	R5L	unknown	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,600,712 (GRCm39)	T670I	probably damaging	Het
Zfp433	A	T	10: 81,556,122 (GRCm39)	H208L	probably damaging	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	possibly damaging	Het

Other mutations in Tfcp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Tfcp2	APN	15	100,411,059 (GRCm39)	unclassified	probably benign
IGL00916:Tfcp2	APN	15	100,418,559 (GRCm39)	missense	probably damaging	1.00
IGL01819:Tfcp2	APN	15	100,402,320 (GRCm39)	missense	probably benign	0.02
IGL02075:Tfcp2	APN	15	100,411,061 (GRCm39)	unclassified	probably benign
IGL02370:Tfcp2	APN	15	100,410,185 (GRCm39)	missense	probably damaging	1.00
IGL02608:Tfcp2	APN	15	100,411,991 (GRCm39)	missense	possibly damaging	0.48
IGL03001:Tfcp2	APN	15	100,426,302 (GRCm39)	missense	possibly damaging	0.47
R0153:Tfcp2	UTSW	15	100,412,708 (GRCm39)	missense	probably damaging	1.00
R2879:Tfcp2	UTSW	15	100,449,201 (GRCm39)	splice site	probably null
R3103:Tfcp2	UTSW	15	100,423,481 (GRCm39)	missense	probably damaging	1.00
R4302:Tfcp2	UTSW	15	100,412,730 (GRCm39)	missense	possibly damaging	0.77
R4929:Tfcp2	UTSW	15	100,426,370 (GRCm39)	missense	probably benign	0.29
R4965:Tfcp2	UTSW	15	100,423,531 (GRCm39)	missense	probably damaging	1.00
R5196:Tfcp2	UTSW	15	100,418,595 (GRCm39)	missense	probably damaging	1.00
R5407:Tfcp2	UTSW	15	100,425,755 (GRCm39)	splice site	probably null
R6091:Tfcp2	UTSW	15	100,410,194 (GRCm39)	missense	probably damaging	1.00
R6136:Tfcp2	UTSW	15	100,410,194 (GRCm39)	missense	probably damaging	1.00
R7241:Tfcp2	UTSW	15	100,416,468 (GRCm39)	missense	possibly damaging	0.95
R7808:Tfcp2	UTSW	15	100,420,310 (GRCm39)	missense	probably damaging	1.00
R8204:Tfcp2	UTSW	15	100,420,329 (GRCm39)	missense	possibly damaging	0.68
R8841:Tfcp2	UTSW	15	100,410,989 (GRCm39)	missense	probably damaging	1.00
R8931:Tfcp2	UTSW	15	100,402,298 (GRCm39)	missense	possibly damaging	0.58
R9053:Tfcp2	UTSW	15	100,396,092 (GRCm39)	missense
R9080:Tfcp2	UTSW	15	100,395,968 (GRCm39)	frame shift	probably null
X0011:Tfcp2	UTSW	15	100,410,961 (GRCm39)	critical splice donor site	probably null
X0040:Tfcp2	UTSW	15	100,416,479 (GRCm39)	missense	probably damaging	1.00
X0063:Tfcp2	UTSW	15	100,410,182 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATCACAGCTGGCTGAAAAG -3'
(R):5'- CTCTCGTGTTGGAGAAGACC -3'

Sequencing Primer
(F):5'- CTGGCTGAAAAGTCTGACATGTTTC -3'
(R):5'- CCTGTGTGATAGAAACAGTTCGC -3'

Posted On

2022-03-25