Mutagenetix > Incidental Mutation

Incidental Mutation 'R7808:Tfcp2'

600971

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

045863-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7808 (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 100420310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 175 (F175S)

Ref Sequence

ENSEMBL: ENSMUSP00000009877 (fasta)

Gene Model

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

AlphaFold

Q9ERA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000009877
AA Change: F175S

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

SMART Domains

Protein: ENSMUSP00000009877
Gene: ENSMUSG00000009733
AA Change: F175S

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 damaging
Transcript: ENSMUST00000229581
AA Change: F175S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229696
AA Change: F175S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (86/87)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 86,957,297 (GRCm39)	V11A	probably benign	Het
Abca12	A	T	1: 71,313,793 (GRCm39)		probably null	Het
Abcc12	T	A	8: 87,234,568 (GRCm39)	M1232L	probably benign	Het
Adamts1	T	C	16: 85,597,117 (GRCm39)	Y314C	probably damaging	Het
Adgb	A	G	10: 10,254,403 (GRCm39)		probably null	Het
Ankrd12	T	A	17: 66,292,648 (GRCm39)	K928N	possibly damaging	Het
Ano5	A	T	7: 51,237,543 (GRCm39)	K789I	possibly damaging	Het
Cacna1d	G	T	14: 29,833,026 (GRCm39)	N938K	probably damaging	Het
Camk1g	T	C	1: 193,032,593 (GRCm39)	R273G	possibly damaging	Het
Caprin2	C	A	6: 148,744,528 (GRCm39)	V966F	probably damaging	Het
Card6	T	C	15: 5,128,954 (GRCm39)	H814R	probably benign	Het
Cenatac	T	C	9: 44,324,215 (GRCm39)	Q228R	probably null	Het
Cflar	A	G	1: 58,750,740 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,204,204 (GRCm39)	N66K	probably benign	Het
Clasrp	C	T	7: 19,322,671 (GRCm39)		probably null	Het
Clec4a4	T	C	6: 122,967,339 (GRCm39)	I5T	probably damaging	Het
Cmtr2	T	C	8: 110,948,251 (GRCm39)	I187T	possibly damaging	Het
Cnga1	A	T	5: 72,761,616 (GRCm39)	F633I	possibly damaging	Het
Col16a1	C	T	4: 129,967,057 (GRCm39)	P909S	unknown	Het
Csf1	C	A	3: 107,667,361 (GRCm39)	A7S	possibly damaging	Het
Cstpp1	T	C	2: 91,274,939 (GRCm39)		probably benign	Het
Dhx30	A	T	9: 109,915,270 (GRCm39)	V833D	probably benign	Het
Dlg2	T	G	7: 92,080,263 (GRCm39)	I712M	probably benign	Het
Dmxl1	T	A	18: 50,011,382 (GRCm39)	F1180I	probably benign	Het
Dnah9	T	A	11: 65,896,631 (GRCm39)	K2398*	probably null	Het
Dus1l	C	T	11: 120,680,262 (GRCm39)	G471D	possibly damaging	Het
Dync1h1	A	T	12: 110,621,893 (GRCm39)	N3412I	possibly damaging	Het
Dync1i2	T	A	2: 71,081,178 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,047,911 (GRCm39)	S333P	possibly damaging	Het
Eed	A	T	7: 89,605,541 (GRCm39)	N349K	probably benign	Het
Eipr1	A	T	12: 28,816,769 (GRCm39)		probably null	Het
Fbxw16	A	C	9: 109,277,222 (GRCm39)	V40G	probably damaging	Het
Fgfr4	A	C	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Fgl2	A	T	5: 21,578,229 (GRCm39)	N172I	possibly damaging	Het
Fhip1b	G	A	7: 105,033,732 (GRCm39)	R509C	probably damaging	Het
Gabbr2	T	A	4: 46,875,744 (GRCm39)	H126L	possibly damaging	Het
Gcnt2	A	T	13: 41,014,338 (GRCm39)	N170Y	possibly damaging	Het
Gpt	A	G	15: 76,583,093 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,235,489 (GRCm39)	I1564T	probably benign	Het
Il22ra1	C	A	4: 135,478,107 (GRCm39)	Q393K	possibly damaging	Het
Inpp5d	A	T	1: 87,611,567 (GRCm39)	K340*	probably null	Het
Jcad	A	G	18: 4,673,113 (GRCm39)	K292E	probably damaging	Het
Krt5	T	A	15: 101,617,453 (GRCm39)	T427S	probably benign	Het
Krt76	T	C	15: 101,798,929 (GRCm39)	D252G	probably damaging	Het
Krtap26-1	A	G	16: 88,444,198 (GRCm39)	V141A	not run	Het
Lce6a	A	T	3: 92,527,642 (GRCm39)	V55D	probably benign	Het
Lpxn	C	T	19: 12,802,185 (GRCm39)	S170F	possibly damaging	Het
Magi2	T	C	5: 20,670,838 (GRCm39)	V394A	probably benign	Het
Mbnl1	G	A	3: 60,522,242 (GRCm39)		probably null	Het
Med16	T	A	10: 79,734,252 (GRCm39)	K554M	probably damaging	Het
Mettl14	T	C	3: 123,166,234 (GRCm39)	D276G	possibly damaging	Het
Mphosph9	T	C	5: 124,399,009 (GRCm39)	D1002G	probably damaging	Het
Mroh9	T	C	1: 162,866,678 (GRCm39)	E686G	probably damaging	Het
Nav1	T	C	1: 135,379,986 (GRCm39)	Y1512C	unknown	Het
Neb	T	C	2: 52,082,035 (GRCm39)	Y5712C	probably damaging	Het
Nek7	T	A	1: 138,489,509 (GRCm39)		probably benign	Het
Nptx1	T	A	11: 119,435,462 (GRCm39)	I285F	probably damaging	Het
Oas1d	G	T	5: 121,053,034 (GRCm39)	E30*	probably null	Het
Or1p1b	A	T	11: 74,130,725 (GRCm39)	I112F	probably damaging	Het
Or51g2	A	G	7: 102,622,317 (GRCm39)	V294A	possibly damaging	Het
Or6n1	C	A	1: 173,917,417 (GRCm39)	Y270*	probably null	Het
Parp4	T	G	14: 56,873,205 (GRCm39)	S1150A	possibly damaging	Het
Pinx1	A	T	14: 64,156,741 (GRCm39)	K223*	probably null	Het
Plekha5	T	C	6: 140,529,640 (GRCm39)	L1034S	probably damaging	Het
Ppp4r3a	A	G	12: 101,019,755 (GRCm39)	V400A	possibly damaging	Het
Prtg	A	T	9: 72,749,979 (GRCm39)	I128F	possibly damaging	Het
Rars1	T	C	11: 35,719,534 (GRCm39)	E96G	probably benign	Het
Rhpn1	T	A	15: 75,585,299 (GRCm39)	S551T	probably benign	Het
Selenow	C	T	7: 15,656,176 (GRCm39)		probably null	Het
Serpina9	A	T	12: 103,967,484 (GRCm39)		probably null	Het
Shank3	A	T	15: 89,433,083 (GRCm39)	D1276V	probably damaging	Het
Slc27a6	A	G	18: 58,742,267 (GRCm39)	T494A	probably damaging	Het
Slc34a1	A	C	13: 24,003,317 (GRCm39)	H285P	probably damaging	Het
Slc6a21	A	C	7: 44,932,360 (GRCm39)	T54P		Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tal1	T	C	4: 114,925,489 (GRCm39)	V186A	probably benign	Het
Tars3	A	G	7: 65,302,009 (GRCm39)	K178E	probably benign	Het
Tex10	T	A	4: 48,459,984 (GRCm39)	I456L	probably benign	Het
Timp2	C	T	11: 118,194,626 (GRCm39)	A188T	probably damaging	Het
Tmc5	T	A	7: 118,268,440 (GRCm39)	I836N	probably damaging	Het
Tmem100	T	A	11: 89,926,302 (GRCm39)	M43K	probably benign	Het
Ulk2	A	G	11: 61,745,378 (GRCm39)	Y9H	probably damaging	Het
Usp7	T	C	16: 8,523,027 (GRCm39)	K311E	probably damaging	Het
Vmn1r238	G	A	18: 3,123,033 (GRCm39)	T127I	probably benign	Het
Vmn2r28	T	C	7: 5,496,678 (GRCm39)	Y58C	probably damaging	Het
Wdr55	G	A	18: 36,893,469 (GRCm39)	G44S	probably benign	Het
Zfp677	C	A	17: 21,617,647 (GRCm39)	H235N	probably damaging	Het
Zfp869	T	A	8: 70,159,636 (GRCm39)	R312S	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTGAACAGACCATGTG -3'
(R):5'- CATCACAAACGGTTGCTTTCTTAC -3'

Sequencing Primer
(F):5'- CCTTGAACAGACCATGTGACTGTG -3'
(R):5'- CACGATCATGGTGGCACATGTTC -3'

Posted On

2019-11-26