Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Tcf25'

398824

Institutional Source

Beutler Lab

Gene Symbol

Tcf25

Ensembl Gene

ENSMUSG00000001472

Gene Name

transcription factor 25 (basic helix-loop-helix)

Synonyms

Nulp1, 1810041K11Rik, D8Ertd325e, 1100001J13Rik

MMRRC Submission

042820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124100492-124130574 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 124115372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 203 (R203L)

Ref Sequence

ENSEMBL: ENSMUSP00000148344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057934] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212470] [ENSMUST00000212569] [ENSMUST00000212571]

AlphaFold

Q8R3L2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057934
AA Change: R228L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: R228L

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	34	55	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
Pfam:Tcf25	248	588	4.6e-120	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108840
AA Change: R228L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: R228L

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	34	55	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
Pfam:Tcf25	247	588	2.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211932
AA Change: R228L

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211964

Predicted Effect

probably damaging
Transcript: ENSMUST00000212470
AA Change: R203L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212569
AA Change: R203L

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212571
AA Change: R228L

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212741

Meta Mutation Damage Score

0.4609

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Slc7a2	T	C	8: 41,361,130 (GRCm39)	Y365H	possibly damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	probably damaging	Het

Other mutations in Tcf25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Tcf25	APN	8	124,119,975 (GRCm39)	missense	possibly damaging	0.87
IGL02638:Tcf25	APN	8	124,126,031 (GRCm39)	missense	probably damaging	1.00
IGL03112:Tcf25	APN	8	124,109,258 (GRCm39)	splice site	probably benign
R0492:Tcf25	UTSW	8	124,108,203 (GRCm39)	missense	probably benign	0.00
R1081:Tcf25	UTSW	8	124,108,212 (GRCm39)	missense	probably benign	0.00
R1543:Tcf25	UTSW	8	124,115,326 (GRCm39)	missense	probably benign	0.01
R1634:Tcf25	UTSW	8	124,123,830 (GRCm39)	missense	possibly damaging	0.68
R1662:Tcf25	UTSW	8	124,108,289 (GRCm39)	missense	probably benign	0.00
R2253:Tcf25	UTSW	8	124,100,772 (GRCm39)	missense	probably benign	0.21
R4326:Tcf25	UTSW	8	124,127,882 (GRCm39)	nonsense	probably null
R4327:Tcf25	UTSW	8	124,127,882 (GRCm39)	nonsense	probably null
R4667:Tcf25	UTSW	8	124,123,764 (GRCm39)	missense	possibly damaging	0.89
R4977:Tcf25	UTSW	8	124,115,374 (GRCm39)	missense	probably benign	0.03
R5248:Tcf25	UTSW	8	124,100,678 (GRCm39)	missense	probably damaging	1.00
R5759:Tcf25	UTSW	8	124,108,196 (GRCm39)	missense	probably benign	0.00
R5806:Tcf25	UTSW	8	124,108,243 (GRCm39)	missense	probably benign	0.09
R5813:Tcf25	UTSW	8	124,122,354 (GRCm39)	splice site	probably null
R5905:Tcf25	UTSW	8	124,108,176 (GRCm39)	missense	possibly damaging	0.78
R6028:Tcf25	UTSW	8	124,108,176 (GRCm39)	missense	possibly damaging	0.78
R6114:Tcf25	UTSW	8	124,111,114 (GRCm39)	missense	probably damaging	1.00
R6349:Tcf25	UTSW	8	124,118,332 (GRCm39)	missense	probably damaging	1.00
R6904:Tcf25	UTSW	8	124,127,437 (GRCm39)	critical splice donor site	probably null
R7232:Tcf25	UTSW	8	124,127,800 (GRCm39)	splice site	probably null
R7287:Tcf25	UTSW	8	124,100,711 (GRCm39)	missense	possibly damaging	0.74
R9062:Tcf25	UTSW	8	124,116,448 (GRCm39)	missense
R9135:Tcf25	UTSW	8	124,108,182 (GRCm39)	missense	probably benign	0.00
R9396:Tcf25	UTSW	8	124,127,831 (GRCm39)	missense	probably benign	0.00
RF007:Tcf25	UTSW	8	124,122,369 (GRCm39)	missense	probably benign	0.03
Z1176:Tcf25	UTSW	8	124,100,645 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTGCAGCTTGACTTTCACAG -3'
(R):5'- GATACTTTTCCATGCCATAGAGCC -3'

Sequencing Primer
(F):5'- TCACAGTTCCCGTGGGCATTAG -3'
(R):5'- GCAAGGCTATTTACTGCATGC -3'

Posted On

2016-07-06