Mutagenetix > Incidental Mutation

Incidental Mutation 'R0972:Tcf21'

82881

Institutional Source

Beutler Lab

Gene Symbol

Tcf21

Ensembl Gene

ENSMUSG00000045680

Gene Name

transcription factor 21

Synonyms

bHLHa23, podocyte-expressed 1, epicardin, Pod-1, epc, capsulin, Pod1

MMRRC Submission

039101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22693162-22696042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22695621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 61 (K61R)

Ref Sequence

ENSEMBL: ENSMUSP00000151767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049930] [ENSMUST00000218002]

AlphaFold

O35437

Predicted Effect

probably benign
Transcript: ENSMUST00000049930
AA Change: K61R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000053178
Gene: ENSMUSG00000045680
AA Change: K61R

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
HLH	85	137	3.3e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218002
AA Change: K61R

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220000

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (72/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit hypoplastic lungs and kidneys with abnormal vasculature of these organs and the hemopericardium, and die at birth due to respiratory failure. Homozygotes for some mutations are also asplenic. Some alleles cause sex reversal in XY mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	A	8: 41,208,168 (GRCm39)	R478Q	probably damaging	Het
Adgrf5	A	T	17: 43,761,874 (GRCm39)	S1190C	probably damaging	Het
Akr1a1	T	C	4: 116,497,204 (GRCm39)		probably null	Het
Bco2	A	T	9: 50,447,615 (GRCm39)	D369E	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Brsk2	C	G	7: 141,547,441 (GRCm39)		probably benign	Het
Cct8	A	G	16: 87,283,508 (GRCm39)	V269A	possibly damaging	Het
Cdh12	A	T	15: 21,237,850 (GRCm39)	Q28H	probably benign	Het
Cep290	A	G	10: 100,354,624 (GRCm39)	T896A	probably benign	Het
Chrm2	T	A	6: 36,501,401 (GRCm39)	N419K	possibly damaging	Het
Clasp2	A	T	9: 113,676,773 (GRCm39)	H168L	possibly damaging	Het
Cog3	A	T	14: 75,954,610 (GRCm39)	M643K	probably benign	Het
Col6a5	A	G	9: 105,817,484 (GRCm39)	S276P	unknown	Het
Colgalt2	T	C	1: 152,347,495 (GRCm39)	V143A	probably damaging	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Cwc27	C	A	13: 104,797,865 (GRCm39)	E365*	probably null	Het
Ddx56	A	T	11: 6,217,718 (GRCm39)	M1K	probably null	Het
Dnah3	C	T	7: 119,634,563 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,136,176 (GRCm39)	T988A	possibly damaging	Het
Esp15	T	A	17: 39,953,557 (GRCm39)	F15I	possibly damaging	Het
Fam237b	T	A	5: 5,625,512 (GRCm39)	D69E	probably benign	Het
Fbh1	C	T	2: 11,768,899 (GRCm39)		probably benign	Het
Gucy1b2	A	T	14: 62,646,127 (GRCm39)	I572N	possibly damaging	Het
Gucy1b2	T	C	14: 62,651,818 (GRCm39)	I393V	possibly damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Herc1	C	A	9: 66,279,427 (GRCm39)	R112S	probably damaging	Het
Itga7	G	A	10: 128,778,746 (GRCm39)	R291H	probably damaging	Het
Jag1	A	G	2: 136,925,371 (GRCm39)	L1077S	possibly damaging	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klrc2	T	C	6: 129,635,726 (GRCm39)	Y134C	probably damaging	Het
Map2k2	C	A	10: 80,955,482 (GRCm39)	D67E	probably benign	Het
Mest	G	A	6: 30,740,683 (GRCm39)	W14*	probably null	Het
Mier2	A	G	10: 79,380,455 (GRCm39)		probably benign	Het
Mog	A	G	17: 37,328,424 (GRCm39)	V169A	probably benign	Het
Mov10l1	T	C	15: 88,905,482 (GRCm39)	V879A	probably damaging	Het
Mrgpra9	A	G	7: 46,885,203 (GRCm39)	S155P	probably damaging	Het
Mtmr10	A	G	7: 63,976,457 (GRCm39)	D418G	probably damaging	Het
Mtpn	T	C	6: 35,498,911 (GRCm39)	D58G	probably null	Het
Myh8	A	G	11: 67,188,585 (GRCm39)	R1056G	probably damaging	Het
Nek1	T	A	8: 61,542,465 (GRCm39)		probably null	Het
Or4k38	T	C	2: 111,165,763 (GRCm39)	Y220C	probably benign	Het
Or5al7	A	C	2: 85,992,648 (GRCm39)	L215R	possibly damaging	Het
Or8b36	T	A	9: 37,937,856 (GRCm39)	F251L	possibly damaging	Het
Pcnx1	G	A	12: 81,960,186 (GRCm39)	D181N	probably damaging	Het
Pdzrn4	A	G	15: 92,655,592 (GRCm39)	D495G	probably benign	Het
Plppr3	A	G	10: 79,700,920 (GRCm39)	S641P	probably damaging	Het
Pramel11	T	A	4: 143,623,533 (GRCm39)	T214S	probably benign	Het
Prelp	A	T	1: 133,842,414 (GRCm39)	Y244N	probably damaging	Het
Prg2	C	A	2: 84,812,393 (GRCm39)	N34K	probably benign	Het
Ptp4a1	A	G	1: 30,984,080 (GRCm39)	V46A	possibly damaging	Het
Rpl6	A	G	5: 121,346,565 (GRCm39)	D222G	possibly damaging	Het
Rtp1	A	T	16: 23,250,058 (GRCm39)	D141V	probably damaging	Het
Sacs	T	A	14: 61,449,412 (GRCm39)	Y3819*	probably null	Het
Serinc5	A	G	13: 92,825,128 (GRCm39)	T186A	probably benign	Het
Slc15a2	A	G	16: 36,577,501 (GRCm39)	S422P	probably benign	Het
Slc2a8	A	T	2: 32,865,379 (GRCm39)	V366D	probably benign	Het
Smarca1	T	C	X: 46,938,864 (GRCm39)	R715G	possibly damaging	Het
Spdef	C	T	17: 27,933,997 (GRCm39)	A275T	probably damaging	Het
Tep1	A	G	14: 51,061,753 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,736,490 (GRCm39)		probably benign	Het
Thap11	T	A	8: 106,582,810 (GRCm39)	I273N	probably damaging	Het
Tmem129	T	A	5: 33,812,112 (GRCm39)	E262V	possibly damaging	Het
Tnxb	A	G	17: 34,904,117 (GRCm39)	Y1086C	probably damaging	Het
Togaram2	A	G	17: 72,014,309 (GRCm39)	Y619C	probably damaging	Het
Top1	C	T	2: 160,562,945 (GRCm39)	A717V	probably damaging	Het
Trpm7	G	A	2: 126,646,969 (GRCm39)	P1507S	probably benign	Het
Ubr2	A	T	17: 47,245,187 (GRCm39)		probably null	Het
Usp30	T	C	5: 114,249,925 (GRCm39)		probably benign	Het
Vmn1r3	T	A	4: 3,185,125 (GRCm39)	I61F	probably damaging	Het
Zbtb22	C	T	17: 34,136,326 (GRCm39)	T157I	possibly damaging	Het
Zfp677	A	T	17: 21,618,572 (GRCm39)	H543L	probably damaging	Het
Zranb3	G	T	1: 127,884,383 (GRCm39)	P1001Q	probably damaging	Het

Other mutations in Tcf21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02071:Tcf21	APN	10	22,693,709 (GRCm39)	missense	possibly damaging	0.82
R0121:Tcf21	UTSW	10	22,695,706 (GRCm39)	missense	probably benign	0.00
R1276:Tcf21	UTSW	10	22,695,489 (GRCm39)	missense	probably damaging	1.00
R5109:Tcf21	UTSW	10	22,695,558 (GRCm39)	missense	probably damaging	0.98
R6125:Tcf21	UTSW	10	22,695,665 (GRCm39)	missense	probably benign
R6898:Tcf21	UTSW	10	22,695,403 (GRCm39)	missense	probably benign	0.05
R7851:Tcf21	UTSW	10	22,695,747 (GRCm39)	missense	probably benign
R7966:Tcf21	UTSW	10	22,695,706 (GRCm39)	missense	probably benign	0.00
R8061:Tcf21	UTSW	10	22,695,762 (GRCm39)	missense	probably benign	0.22
R9009:Tcf21	UTSW	10	22,693,671 (GRCm39)	missense	probably benign
R9744:Tcf21	UTSW	10	22,695,726 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- ATTTAACGAGTCACGCTCTCGCCC -3'
(R):5'- AGACCTTCAAGAGGTGGAGATGCTG -3'

Sequencing Primer
(F):5'- CAGGATCTGCCTTAAGTGAGC -3'
(R):5'- TGGACTGTGACTCCCTGAAAG -3'

Posted On

2013-11-08