Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Tfcp2'

407331

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

100395893-100449889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100426302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 83 (D83G)

Ref Sequence

ENSEMBL: ENSMUSP00000155683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009877] [ENSMUST00000229265] [ENSMUST00000229581] [ENSMUST00000229696]

AlphaFold

Q9ERA0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009877
AA Change: D83G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: D83G

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: ENSMUST00000229265

Predicted Effect

probably benign
Transcript: ENSMUST00000229581
AA Change: D83G

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229696
AA Change: D83G

PolyPhen 2 Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230363

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 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,761,042 (GRCm39)	D1918A	probably damaging	Het
Ahcy	C	A	2: 154,906,748 (GRCm39)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm39)	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602 (GRCm39)	M53L	probably benign	Het
Aqr	T	C	2: 113,977,400 (GRCm39)	D363G	probably benign	Het
Asxl3	A	G	18: 22,650,455 (GRCm39)	R815G	probably damaging	Het
Atf4	T	A	15: 80,140,858 (GRCm39)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,969,896 (GRCm39)	M587K	possibly damaging	Het
Btbd8	T	C	5: 107,645,708 (GRCm39)	I9T	probably damaging	Het
Cactin	T	A	10: 81,161,568 (GRCm39)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,424,504 (GRCm39)	S95G	probably benign	Het
Cd1d1	C	T	3: 86,905,468 (GRCm39)	S175N	probably benign	Het
Chd4	C	A	6: 125,078,529 (GRCm39)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,175,554 (GRCm39)		probably null	Het
Cntnap5c	G	A	17: 58,362,634 (GRCm39)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,719,040 (GRCm39)	D238V	unknown	Het
Cuedc1	T	C	11: 88,073,315 (GRCm39)	V160A	probably benign	Het
Depdc5	T	C	5: 33,102,434 (GRCm39)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,126,123 (GRCm39)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,710,891 (GRCm39)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,545,374 (GRCm39)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,056,712 (GRCm39)		probably benign	Het
Flnb	T	C	14: 7,934,680 (GRCm38)	S2251P	probably damaging	Het
Fsip2	A	T	2: 82,820,968 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,716,113 (GRCm39)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,308,586 (GRCm39)		probably benign	Het
Lingo4	C	T	3: 94,309,703 (GRCm39)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,817,901 (GRCm39)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,100,450 (GRCm39)	L342P	probably damaging	Het
Mmp15	T	C	8: 96,094,845 (GRCm39)	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747 (GRCm39)	N95K	probably benign	Het
Nms	C	T	1: 38,980,993 (GRCm39)	P60S	probably benign	Het
Npas3	A	T	12: 53,547,975 (GRCm39)	Y77F	probably damaging	Het
Or2ak7	T	G	11: 58,574,702 (GRCm39)	M1R	probably null	Het
Or51f5	G	T	7: 102,424,460 (GRCm39)	C243F	probably damaging	Het
Or5d43	T	A	2: 88,105,189 (GRCm39)	D68V	probably damaging	Het
Or8d2b	A	G	9: 38,789,374 (GRCm39)	M301V	probably benign	Het
Or9m2	T	A	2: 87,820,493 (GRCm39)	Y13N	probably benign	Het
Or9s27	T	A	1: 92,516,273 (GRCm39)	S74T	probably damaging	Het
Picalm	T	C	7: 89,831,454 (GRCm39)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,421,400 (GRCm39)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,134,338 (GRCm39)	M286I	probably benign	Het
Popdc2	A	T	16: 38,189,881 (GRCm39)	Y176F	probably benign	Het
Psg21	A	T	7: 18,386,410 (GRCm39)	M192K	probably benign	Het
Psma1	C	A	7: 113,865,674 (GRCm39)	A219S	probably benign	Het
Rad21l	T	G	2: 151,510,389 (GRCm39)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,370,767 (GRCm39)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,712,452 (GRCm39)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,291,057 (GRCm39)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,218,858 (GRCm39)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 24,040,767 (GRCm39)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,184,159 (GRCm39)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,383,827 (GRCm39)	I173V	probably benign	Het
Synpo2	T	C	3: 122,873,604 (GRCm39)	T1121A	probably benign	Het
Thnsl1	A	G	2: 21,216,455 (GRCm39)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,786 (GRCm39)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,647,329 (GRCm39)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,565,267 (GRCm39)	N19993S	probably benign	Het
Vps53	T	C	11: 76,029,150 (GRCm39)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,705,495 (GRCm39)	W69R	probably damaging	Het
Zng1	T	C	19: 24,900,002 (GRCm39)	K301E	probably benign	Het
Zswim8	T	C	14: 20,764,459 (GRCm39)	S610P	probably 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
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
R9293:Tfcp2	UTSW	15	100,411,934 (GRCm39)	missense	probably benign
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

Posted On

2016-08-02