Mutagenetix > Incidental Mutation

Incidental Mutation 'R3928:Tfcp2l1'

308352

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

040823-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R3928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118555675-118612898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118597206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 429 (I429K)

Ref Sequence

ENSEMBL: ENSMUSP00000027629 (fasta)

Gene Model

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

AlphaFold

Q3UNW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027629
AA Change: I429K

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027629
Gene: ENSMUSG00000026380
AA Change: I429K

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (48/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	T	11: 76,359,561 (GRCm39)	H181Q	probably benign	Het
Atrx	T	C	X: 104,923,523 (GRCm39)	I157V	possibly damaging	Het
Birc6	A	G	17: 74,918,170 (GRCm39)	D1856G	possibly damaging	Het
Birc6	A	G	17: 74,945,404 (GRCm39)	T2811A	probably damaging	Het
Brsk2	T	C	7: 141,552,155 (GRCm39)	F108S	probably damaging	Het
Clasp2	C	A	9: 113,735,173 (GRCm39)	H1004N	probably benign	Het
Cntd1	G	A	11: 101,178,345 (GRCm39)	V315I	probably benign	Het
Col13a1	A	G	10: 61,703,304 (GRCm39)		probably benign	Het
Ctps1	T	A	4: 120,399,093 (GRCm39)	H553L	probably benign	Het
Dpysl2	A	G	14: 67,061,880 (GRCm39)	I242T	possibly damaging	Het
Exoc3l	C	T	8: 106,017,549 (GRCm39)		probably benign	Het
Fam229a	A	G	4: 129,385,204 (GRCm39)		probably benign	Het
Fshr	C	T	17: 89,292,962 (GRCm39)	R572H	probably damaging	Het
Gm5501	A	G	18: 9,917,267 (GRCm39)		noncoding transcript	Het
Gmpr	A	G	13: 45,683,223 (GRCm39)	I165V	probably benign	Het
Gnat3	G	A	5: 18,208,892 (GRCm39)		probably benign	Het
H1f8	A	G	6: 115,925,757 (GRCm39)	K185E	probably benign	Het
H2-Q4	T	G	17: 35,598,666 (GRCm39)	L16R	unknown	Het
Hs2st1	T	C	3: 144,140,389 (GRCm39)	K311E	possibly damaging	Het
Kcnj15	A	G	16: 95,097,368 (GRCm39)	E330G	possibly damaging	Het
Kif3a	A	G	11: 53,461,441 (GRCm39)	K29E	probably benign	Het
Krtap4-1	A	G	11: 99,518,983 (GRCm39)	V9A	unknown	Het
Lmntd2	C	T	7: 140,791,117 (GRCm39)	G432S	probably damaging	Het
Me3	T	C	7: 89,482,898 (GRCm39)		probably benign	Het
Myo1d	G	T	11: 80,375,087 (GRCm39)	R996S	probably benign	Het
Myo9a	T	A	9: 59,802,566 (GRCm39)	W2018R	probably damaging	Het
Nphp3	G	T	9: 103,888,929 (GRCm39)	V265F	probably damaging	Het
Or10ak9	T	C	4: 118,726,179 (GRCm39)	L66P	probably damaging	Het
Or5p67	A	G	7: 107,922,232 (GRCm39)	I217T	probably benign	Het
Or8c16	T	C	9: 38,130,131 (GRCm39)	M1T	probably null	Het
Pgp	A	G	17: 24,690,315 (GRCm39)	E247G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plch1	G	A	3: 63,675,044 (GRCm39)	A202V	probably damaging	Het
Rbm11	G	A	16: 75,389,932 (GRCm39)		probably null	Het
Scg5	T	C	2: 113,622,230 (GRCm39)	K124R	probably damaging	Het
Serpina3j	A	T	12: 104,285,916 (GRCm39)	H357L	probably damaging	Het
St6gal2	A	G	17: 55,803,324 (GRCm39)	D353G	possibly damaging	Het
Tdpoz3	T	C	3: 93,734,216 (GRCm39)	I297T	possibly damaging	Het
Tdrd5	G	A	1: 156,128,348 (GRCm39)	T136I	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Top1	T	C	2: 160,529,669 (GRCm39)		probably benign	Het
Trim61	A	G	8: 65,465,969 (GRCm39)	F431L	probably benign	Het
Trmo	C	T	4: 46,382,647 (GRCm39)	G150S	probably damaging	Het
Vmn1r183	T	C	7: 23,754,997 (GRCm39)	S267P	probably damaging	Het
Xirp2	T	A	2: 67,342,013 (GRCm39)	F1418Y	possibly damaging	Het
Zfp114	T	C	7: 23,880,467 (GRCm39)	V271A	possibly damaging	Het
Zfp710	A	G	7: 79,731,134 (GRCm39)	R104G	probably damaging	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
R4236:Tfcp2l1	UTSW	1	118,589,795 (GRCm39)	missense	probably benign	0.44
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'- TAGCTTGACAGGCATCCATG -3'
(R):5'- GTAGGCTTTCAGCTTCAAGC -3'

Sequencing Primer
(F):5'- GGAGCATCCTTCCATGTAAGCTG -3'
(R):5'- GCTTCAAGCAGGCAACATG -3'

Posted On

2015-04-17