Mutagenetix > Incidental Mutation

Incidental Mutation 'R4236:Tfcp2l1'

321105

Institutional Source

Beutler Lab

Gene Symbol

Tfcp2l1

Ensembl Gene

ENSMUSG00000026380

Gene Name

transcription factor CP2-like 1

Synonyms

D930018N21Rik, 4932442M07Rik, LBP-9, Cp2l1, Crtr-1, 1810030F05Rik, Tcfcp2l1

MMRRC Submission

041053-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R4236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118555675-118612898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118589795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 285 (R285H)

Ref Sequence

ENSEMBL: ENSMUSP00000027629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027629]

AlphaFold

Q3UNW5

Predicted Effect

probably benign
Transcript: ENSMUST00000027629
AA Change: R285H

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: R285H

Domain	Start	End	E-Value	Type
Pfam:CP2	27	240	2e-58	PFAM
low complexity region	377	390	N/A	INTRINSIC
low complexity region	406	416	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (49/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for either a knock-out or a gene-trapped allele display a phenotype characterized by postnatal growth retardation, renal hypoplasia, impaired maturation of the ducts in the salivary gland and kidney, abnormal composition of saliva and urine, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Abca13	A	T	11: 9,206,205 (GRCm39)	K168N	probably damaging	Het
Ajuba	T	C	14: 54,806,983 (GRCm39)	R490G	probably damaging	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atg14	T	C	14: 47,788,802 (GRCm39)	K184E	probably benign	Het
Casp8	T	C	1: 58,883,929 (GRCm39)	V432A	probably damaging	Het
Cela1	T	C	15: 100,580,794 (GRCm39)	Y91C	probably damaging	Het
Chrnb3	C	A	8: 27,884,021 (GRCm39)	L253M	probably damaging	Het
Col24a1	G	T	3: 145,230,037 (GRCm39)	G1493*	probably null	Het
Dnah7a	C	T	1: 53,486,524 (GRCm39)	E3346K	probably benign	Het
Dock5	A	T	14: 67,993,941 (GRCm39)	S1845T	probably benign	Het
Dtx3	A	G	10: 127,029,058 (GRCm39)	I60T	possibly damaging	Het
Eif1ad8	A	T	12: 87,563,935 (GRCm39)	D90V	probably damaging	Het
F2rl1	A	G	13: 95,649,796 (GRCm39)	L362P	probably damaging	Het
Gal3st2c	T	C	1: 93,936,463 (GRCm39)	F136S	probably damaging	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Klhl23	T	C	2: 69,654,516 (GRCm39)	F129L	probably damaging	Het
Krt71	T	C	15: 101,643,129 (GRCm39)	T460A	probably benign	Het
Madd	C	T	2: 90,997,373 (GRCm39)	R746Q	probably benign	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Myh6	T	G	14: 55,197,819 (GRCm39)	M440L	probably benign	Het
Myh7	T	A	14: 55,228,575 (GRCm39)	S205C	probably benign	Het
Nxpe4	A	T	9: 48,310,137 (GRCm39)	T467S	probably damaging	Het
Or13a20	T	C	7: 140,232,653 (GRCm39)	Y254H	probably damaging	Het
Or1e17	A	G	11: 73,831,182 (GRCm39)	T37A	possibly damaging	Het
Or7g30	T	A	9: 19,352,886 (GRCm39)	L226I	probably damaging	Het
Pcdh7	G	A	5: 57,876,631 (GRCm39)	G62D	possibly damaging	Het
Pde3b	A	G	7: 114,120,923 (GRCm39)	T683A	possibly damaging	Het
Plcb2	A	T	2: 118,540,047 (GRCm39)	L1082Q	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Skint11	C	A	4: 114,101,856 (GRCm39)	Q99K	probably benign	Het
Slc6a6	T	C	6: 91,718,257 (GRCm39)	V357A	probably damaging	Het
Slitrk6	T	C	14: 110,987,580 (GRCm39)	E709G	probably benign	Het
Spc24	T	C	9: 21,667,498 (GRCm39)		probably null	Het
Tas2r140	A	T	6: 133,031,915 (GRCm39)	V281D	probably damaging	Het
Tmem132d	A	G	5: 128,509,389 (GRCm39)	S14P	possibly damaging	Het
Tulp2	A	G	7: 45,171,298 (GRCm39)	K360E	probably damaging	Het
Vmn1r60	A	G	7: 5,547,803 (GRCm39)	V99A	probably benign	Het
Zfp599	T	A	9: 22,161,041 (GRCm39)	K375*	probably null	Het

Other mutations in Tfcp2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Tfcp2l1	APN	1	118,580,612 (GRCm39)	missense	possibly damaging	0.70
IGL01725:Tfcp2l1	APN	1	118,596,366 (GRCm39)	missense	possibly damaging	0.80
IGL02281:Tfcp2l1	APN	1	118,597,110 (GRCm39)	splice site	probably benign
R1272:Tfcp2l1	UTSW	1	118,560,043 (GRCm39)	missense	probably damaging	1.00
R1680:Tfcp2l1	UTSW	1	118,603,335 (GRCm39)	missense	probably damaging	0.99
R1959:Tfcp2l1	UTSW	1	118,597,119 (GRCm39)	missense	probably benign	0.40
R1965:Tfcp2l1	UTSW	1	118,580,653 (GRCm39)	nonsense	probably null
R3928:Tfcp2l1	UTSW	1	118,597,206 (GRCm39)	missense	possibly damaging	0.92
R4678:Tfcp2l1	UTSW	1	118,596,378 (GRCm39)	missense	probably benign	0.33
R4839:Tfcp2l1	UTSW	1	118,597,194 (GRCm39)	missense	probably benign	0.00
R4858:Tfcp2l1	UTSW	1	118,597,239 (GRCm39)	missense	possibly damaging	0.62
R5587:Tfcp2l1	UTSW	1	118,592,492 (GRCm39)	missense	possibly damaging	0.59
R5679:Tfcp2l1	UTSW	1	118,596,377 (GRCm39)	missense	probably benign
R6899:Tfcp2l1	UTSW	1	118,603,305 (GRCm39)	missense	probably benign
R7010:Tfcp2l1	UTSW	1	118,581,457 (GRCm39)	missense	probably damaging	1.00
R7155:Tfcp2l1	UTSW	1	118,596,362 (GRCm39)	missense	probably damaging	1.00
R7494:Tfcp2l1	UTSW	1	118,592,686 (GRCm39)	missense	probably damaging	1.00
R7849:Tfcp2l1	UTSW	1	118,603,325 (GRCm39)	missense	probably damaging	1.00
R8553:Tfcp2l1	UTSW	1	118,560,082 (GRCm39)	missense	probably damaging	1.00
R8794:Tfcp2l1	UTSW	1	118,560,118 (GRCm39)	missense	probably damaging	1.00
R8937:Tfcp2l1	UTSW	1	118,596,447 (GRCm39)	missense	possibly damaging	0.52
Z1177:Tfcp2l1	UTSW	1	118,584,228 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATGAATGCTTGCTTCCGC -3'
(R):5'- AGAAAAGAGCATGCACGCAT -3'

Sequencing Primer
(F):5'- CTTCCGCAGAAGGGCCC -3'
(R):5'- CTCAAAGATATCTGGGCCGTG -3'

Posted On

2015-06-12