Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Tfcp2'

674446

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

068732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100395893-100449889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100410989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 373 (I373T)

Ref Sequence

ENSEMBL: ENSMUSP00000009877 (fasta)

Gene Model

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

AlphaFold

Q9ERA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009877
AA Change: I373T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: I373T

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 damaging
Transcript: ENSMUST00000229581
AA Change: I375T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229696
AA Change: I375T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000231174

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,143,925 (GRCm39)		probably benign	Het
Chaf1b	C	T	16: 93,701,908 (GRCm39)	T510I	probably benign	Het
Chrd	T	A	16: 20,554,487 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,393,580 (GRCm39)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,579,950 (GRCm39)	R303S	probably benign	Het
Emsy	A	G	7: 98,264,768 (GRCm39)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,712,844 (GRCm39)		probably benign	Het
Fndc1	A	G	17: 7,992,181 (GRCm39)	V505A	unknown	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,681,972 (GRCm39)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,794,426 (GRCm39)	E298G	probably benign	Het
Glp2r	G	T	11: 67,653,555 (GRCm39)	P77T	probably damaging	Het
Gpam	C	A	19: 55,066,950 (GRCm39)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,760,709 (GRCm39)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,550,789 (GRCm39)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,615,659 (GRCm39)	V588I	probably benign	Het
Klhdc4	T	A	8: 122,523,380 (GRCm39)	E554V	possibly damaging	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Lad1	A	G	1: 135,754,970 (GRCm39)	D82G	probably benign	Het
Lin7a	A	G	10: 107,218,524 (GRCm39)	R145G	possibly damaging	Het
Lmna	A	G	3: 88,391,920 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,628,188 (GRCm39)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,152,037 (GRCm39)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,201,203 (GRCm39)	E153G	probably damaging	Het
Mefv	C	T	16: 3,528,842 (GRCm39)	C563Y	probably benign	Het
Myo7b	T	C	18: 32,097,490 (GRCm39)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,646,274 (GRCm39)	T148M	probably damaging	Het
Nomo1	T	A	7: 45,707,911 (GRCm39)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,005,841 (GRCm39)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,003,938 (GRCm39)	I205S	probably benign	Het
Or4k15	T	A	14: 50,364,666 (GRCm39)	F211I	probably damaging	Het
Or52e5	T	A	7: 104,719,479 (GRCm39)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 128,870,042 (GRCm39)	V223A	probably benign	Het
Or7e168	A	T	9: 19,719,885 (GRCm39)	R90S	probably benign	Het
Or8g21	A	G	9: 38,905,879 (GRCm39)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,488,699 (GRCm39)	I126V	probably benign	Het
Phactr4	A	G	4: 132,092,884 (GRCm39)		probably null	Het
Pign	T	C	1: 105,485,634 (GRCm39)		probably benign	Het
Plekhn1	A	G	4: 156,316,655 (GRCm39)	L342P	probably damaging	Het
Pomk	G	A	8: 26,476,407 (GRCm39)	A49V	probably benign	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,045,329 (GRCm39)	F406L	probably benign	Het
Rexo5	G	A	7: 119,448,011 (GRCm39)	S752N	probably benign	Het
Rin3	A	T	12: 102,335,537 (GRCm39)	I483L	probably benign	Het
Scn1a	T	A	2: 66,156,466 (GRCm39)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,320,208 (GRCm39)	I554T	probably damaging	Het
Shc2	A	G	10: 79,458,150 (GRCm39)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,261,713 (GRCm39)	S200F	probably damaging	Het
Slc25a38	A	G	9: 119,949,845 (GRCm39)	D208G	probably damaging	Het
Smok3c	C	A	5: 138,063,537 (GRCm39)	D341E	probably damaging	Het
Tnpo3	T	A	6: 29,589,182 (GRCm39)	D56V	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,465,993 (GRCm39)		probably benign	Het
Ulk4	A	G	9: 121,033,804 (GRCm39)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,210,007 (GRCm39)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,283,299 (GRCm39)	N331S		Het
Vmn2r4	T	C	3: 64,314,058 (GRCm39)	I308V	probably damaging	Het
Vwa8	T	A	14: 79,184,702 (GRCm39)	V400E	probably benign	Het
Washc2	A	G	6: 116,235,916 (GRCm39)	D1129G	probably benign	Het
Washc5	G	T	15: 59,206,971 (GRCm39)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,594,938 (GRCm39)	L7F	probably benign	Het
Xpo4	T	C	14: 57,835,413 (GRCm39)	K636R	probably damaging	Het
Zan	T	A	5: 137,454,936 (GRCm39)	T1367S	unknown	Het
Zfp691	A	T	4: 119,027,861 (GRCm39)	S124T	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCACATATCAGTGAGCATGTGG -3'
(R):5'- AGCATACTGTAGACTGTAATGTGAC -3'

Sequencing Primer
(F):5'- GAACAACTTCTGGCAGTTAGTACC -3'
(R):5'- CTGTAGACTGTAATGTGACACTCAGG -3'

Posted On

2021-07-15