Mutagenetix > Incidental Mutations

Incidental Mutation 'R0492:Tcf25'

42562

Institutional Source

Beutler Lab

Gene Symbol

Tcf25

Ensembl Gene

ENSMUSG00000001472

Gene Name

transcription factor 25 (basic helix-loop-helix)

Synonyms

1100001J13Rik, Nulp1, D8Ertd325e, 1810041K11Rik

MMRRC Submission

038690-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0492 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123373753-123403835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 123381464 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 86 (P86Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148454 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057934
AA Change: P86Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: P86Q

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

probably benign
Transcript: ENSMUST00000108840
AA Change: P86Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: P86Q

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

probably benign
Transcript: ENSMUST00000211932
AA Change: P86Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211964

Predicted Effect

probably benign
Transcript: ENSMUST00000212470
AA Change: P86Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212498

Predicted Effect

probably benign
Transcript: ENSMUST00000212569
AA Change: P86Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000212571
AA Change: P86Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

99% (99/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	T	5: 24,554,628	L48Q	probably damaging	Het
Adgrb2	C	G	4: 130,007,831	P416R	probably damaging	Het
Adgre1	A	G	17: 57,402,742	D133G	unknown	Het
AI314180	A	G	4: 58,864,418	W288R	probably damaging	Het
Alpl	A	C	4: 137,749,576		probably null	Het
Ankrd65	T	C	4: 155,790,676		probably benign	Het
Baalc	A	T	15: 38,934,085		probably benign	Het
Bpifb5	A	G	2: 154,228,900	T204A	probably benign	Het
Bud31	A	G	5: 145,146,455	Y77C	probably damaging	Het
Capsl	A	G	15: 9,461,844		probably benign	Het
Ccna1	A	G	3: 55,048,583	V116A	probably damaging	Het
Cdc42bpa	C	A	1: 180,101,190	H723N	probably benign	Het
Cfap161	T	C	7: 83,794,037	I40V	possibly damaging	Het
CK137956	C	T	4: 127,951,300	V217I	probably benign	Het
Cog5	A	G	12: 31,869,461	T540A	probably damaging	Het
Cps1	T	C	1: 67,157,836	W349R	probably damaging	Het
Crispld2	G	T	8: 120,026,067	V285L	probably benign	Het
Crtc2	T	A	3: 90,263,497	F626I	probably damaging	Het
Daam1	G	A	12: 71,944,380	R256H	unknown	Het
Dhx38	G	T	8: 109,561,944		probably benign	Het
Dok4	G	A	8: 94,865,136	A324V	probably benign	Het
Dscam	T	C	16: 96,825,782		probably null	Het
Dusp16	A	T	6: 134,718,402	S489T	probably benign	Het
Erbin	A	T	13: 103,834,358	Y917N	probably damaging	Het
F13b	A	T	1: 139,522,559		probably null	Het
Fam26f	G	A	10: 34,127,651	R87*	probably null	Het
Fdx1	C	A	9: 51,963,425	A15S	probably benign	Het
Ffar4	A	T	19: 38,097,182	Q19L	probably benign	Het
Folh1	A	C	7: 86,746,192	V344G	probably damaging	Het
Fscb	T	A	12: 64,473,518	E391D	possibly damaging	Het
Gigyf2	G	A	1: 87,440,846	G1083R	probably damaging	Het
Gm14403	C	A	2: 177,508,566	H102N	probably benign	Het
Gm4847	A	G	1: 166,630,392	F464S	probably damaging	Het
Gpam	A	T	19: 55,096,179	M56K	possibly damaging	Het
Gpr165	T	A	X: 96,717,172	F352I	probably damaging	Het
Grik2	T	G	10: 49,101,164	I891L	probably damaging	Het
Gsr	T	C	8: 33,681,575		probably benign	Het
Hhla1	A	G	15: 65,936,291	F302L	probably benign	Het
Impg1	T	C	9: 80,345,308	D453G	possibly damaging	Het
Inpp5d	T	A	1: 87,698,150	V495E	possibly damaging	Het
Iqce	A	T	5: 140,675,235	L450H	probably damaging	Het
Itfg2	A	G	6: 128,413,523		probably null	Het
Kif13a	A	G	13: 46,812,742	V400A	possibly damaging	Het
Kif7	T	C	7: 79,713,881	Y93C	probably damaging	Het
Krt33a	A	G	11: 100,016,083	V22A	probably benign	Het
Lct	T	C	1: 128,300,582	D1058G	probably damaging	Het
Lrp6	G	T	6: 134,480,518	D774E	possibly damaging	Het
Lrrc9	T	A	12: 72,478,763	S828R	possibly damaging	Het
Ly75	A	G	2: 60,308,276	W1416R	probably damaging	Het
Mdh2	T	C	5: 135,790,150	I320T	possibly damaging	Het
Med13l	T	A	5: 118,738,495	V912E	probably damaging	Het
Mgarp	T	C	3: 51,389,035	D182G	possibly damaging	Het
Mllt10	T	C	2: 18,146,887		probably benign	Het
Mmp28	G	A	11: 83,443,803	A375V	probably damaging	Het
Mrps23	T	A	11: 88,210,685	H133Q	probably benign	Het
Msh6	T	C	17: 87,975,251	S35P	probably benign	Het
Myo3a	A	G	2: 22,323,636	D347G	possibly damaging	Het
Npc1l1	T	C	11: 6,223,040	K800E	possibly damaging	Het
Olfr1034	T	C	2: 86,046,587	V35A	probably benign	Het
Olfr1034	T	C	2: 86,046,934	F151L	possibly damaging	Het
Olfr1086	G	A	2: 86,676,490	P281L	probably damaging	Het
Olfr152	T	G	2: 87,782,822	I94S	probably damaging	Het
Olfr414	T	A	1: 174,430,563	I45N	possibly damaging	Het
Olfr632	T	C	7: 103,937,764	I128T	probably benign	Het
Olfr695	A	T	7: 106,873,877	Y123N	probably damaging	Het
Osmr	A	C	15: 6,824,518	W570G	probably damaging	Het
Otol1	A	T	3: 70,027,784	I370F	probably damaging	Het
Pank2	A	G	2: 131,280,260	Y235C	probably damaging	Het
Pias2	T	C	18: 77,105,885	S187P	probably damaging	Het
Pkhd1l1	A	G	15: 44,519,690	N1115S	probably benign	Het
Pld1	G	T	3: 28,109,817	A800S	probably damaging	Het
Prex2	T	C	1: 11,186,633		probably benign	Het
Ptpn3	T	C	4: 57,194,304	Q908R	probably benign	Het
Rab3gap2	T	A	1: 185,252,392		probably benign	Het
Rbm24	A	T	13: 46,420,350	N82Y	probably damaging	Het
Rpl27	T	C	11: 101,445,255	V47A	possibly damaging	Het
Serpina1f	A	G	12: 103,693,567	V152A	possibly damaging	Het
Serpina5	A	G	12: 104,102,133	Y151C	probably damaging	Het
Serpinb7	A	G	1: 107,452,007	*381W	probably null	Het
Sh2b2	A	G	5: 136,232,263	F33S	probably damaging	Het
Slc22a2	A	C	17: 12,615,272	I476L	probably benign	Het
Slc6a12	A	T	6: 121,355,372	I222F	probably benign	Het
Smim26	G	A	2: 144,595,113	D61N	probably damaging	Het
Soat1	A	T	1: 156,441,354	Y209N	probably benign	Het
Sorl1	T	C	9: 41,991,371	H1630R	probably null	Het
Sptlc2	A	T	12: 87,346,806		probably null	Het
Strn3	G	A	12: 51,610,404	T642I	probably damaging	Het
Syce1l	T	A	8: 113,654,068	D137E	possibly damaging	Het
Syne2	T	C	12: 75,982,063		probably null	Het
Tmem19	A	T	10: 115,361,810	Y43*	probably null	Het
Tmem30b	T	C	12: 73,546,168	N58D	probably benign	Het
Tnn	A	C	1: 160,120,757	I795M	probably damaging	Het
Tnpo1	A	G	13: 98,855,446	Y641H	probably damaging	Het
Tra2a	A	T	6: 49,250,955		probably benign	Het
Trappc8	A	T	18: 20,866,186	F295I	probably benign	Het
Vmn2r101	T	A	17: 19,588,983	W125R	probably damaging	Het
Vps8	C	A	16: 21,442,357	F82L	probably damaging	Het
Ythdf2	A	T	4: 132,204,468	S460R	probably damaging	Het

Other mutations in Tcf25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Tcf25	APN	8	123393236	missense	possibly damaging	0.87
IGL02638:Tcf25	APN	8	123399292	missense	probably damaging	1.00
IGL03112:Tcf25	APN	8	123382519	splice site	probably benign
R1081:Tcf25	UTSW	8	123381473	missense	probably benign	0.00
R1543:Tcf25	UTSW	8	123388587	missense	probably benign	0.01
R1634:Tcf25	UTSW	8	123397091	missense	possibly damaging	0.68
R1662:Tcf25	UTSW	8	123381550	missense	probably benign	0.00
R2253:Tcf25	UTSW	8	123374033	missense	probably benign	0.21
R4326:Tcf25	UTSW	8	123401143	nonsense	probably null
R4327:Tcf25	UTSW	8	123401143	nonsense	probably null
R4667:Tcf25	UTSW	8	123397025	missense	possibly damaging	0.89
R4977:Tcf25	UTSW	8	123388635	missense	probably benign	0.03
R5248:Tcf25	UTSW	8	123373939	missense	probably damaging	1.00
R5249:Tcf25	UTSW	8	123388633	missense	probably damaging	1.00
R5759:Tcf25	UTSW	8	123381457	missense	probably benign	0.00
R5806:Tcf25	UTSW	8	123381504	missense	probably benign	0.09
R5813:Tcf25	UTSW	8	123395615	unclassified	probably null
R5905:Tcf25	UTSW	8	123381437	missense	possibly damaging	0.78
R6028:Tcf25	UTSW	8	123381437	missense	possibly damaging	0.78
R6114:Tcf25	UTSW	8	123384375	missense	probably damaging	1.00
R6349:Tcf25	UTSW	8	123391593	missense	probably damaging	1.00
R6904:Tcf25	UTSW	8	123400698	critical splice donor site	probably null
R7232:Tcf25	UTSW	8	123401061	splice site	probably null
R7287:Tcf25	UTSW	8	123373972	missense	possibly damaging	0.74
RF007:Tcf25	UTSW	8	123395630	missense	probably benign	0.03
Z1176:Tcf25	UTSW	8	123373906	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATCACAGGCTTAGAGATGTGCTGG -3'
(R):5'- GGTGGACACACTTATGCAACTGCTG -3'

Sequencing Primer
(F):5'- CACAGTCCTCCCTATTGACAG -3'
(R):5'- GGCCTTCAGATTTCTACAGGAAAC -3'

Posted On

2013-05-23