Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01767:Tcf20'

153357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf20

Ensembl Gene

ENSMUSG00000041852

Gene Name

transcription factor 20

Synonyms

stromelysin 1 PDGF responsive element binding protein, 2810438H08Rik, SPBP

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

IGL01767

Quality Score

Status

Chromosome

Chromosomal Location

82808436-82987872 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82856008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 414 (P414L)

Ref Sequence

ENSEMBL: ENSMUSP00000105136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048966] [ENSMUST00000109510] [ENSMUST00000229439] [ENSMUST00000229547] [ENSMUST00000230403]

AlphaFold

Q9EPQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048966
AA Change: P414L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048486
Gene: ENSMUSG00000041852
AA Change: P414L

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109510
AA Change: P414L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105136
Gene: ENSMUSG00000041852
AA Change: P414L

Domain	Start	End	E-Value	Type
low complexity region	42	74	N/A	INTRINSIC
coiled coil region	163	203	N/A	INTRINSIC
low complexity region	248	277	N/A	INTRINSIC
low complexity region	322	354	N/A	INTRINSIC
low complexity region	396	416	N/A	INTRINSIC
low complexity region	443	456	N/A	INTRINSIC
low complexity region	481	489	N/A	INTRINSIC
low complexity region	511	523	N/A	INTRINSIC
low complexity region	684	715	N/A	INTRINSIC
low complexity region	1047	1056	N/A	INTRINSIC
low complexity region	1532	1544	N/A	INTRINSIC
low complexity region	1577	1593	N/A	INTRINSIC
low complexity region	1602	1617	N/A	INTRINSIC
low complexity region	1793	1804	N/A	INTRINSIC
low complexity region	1860	1874	N/A	INTRINSIC
PHD	1913	1960	6.7e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229439

Predicted Effect

probably benign
Transcript: ENSMUST00000229547

Predicted Effect

probably benign
Transcript: ENSMUST00000230403

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,041,363	V4505A	probably benign	Het
Aadat	A	T	8: 60,507,092	D31V	probably damaging	Het
Acaca	A	T	11: 84,320,542	Y1560F	probably benign	Het
Actl7a	A	G	4: 56,743,980	E169G	probably damaging	Het
Adgrb3	A	G	1: 25,559,814	V270A	probably benign	Het
Adgre4	G	A	17: 55,797,740	V269I	probably benign	Het
Ankhd1	A	G	18: 36,648,374	T2160A	probably damaging	Het
Bnip2	T	A	9: 70,002,116		probably benign	Het
Casp16-ps	A	G	17: 23,552,053	V126A	probably damaging	Het
Ccser1	C	A	6: 61,718,152	T157K	probably benign	Het
Cdh23	A	G	10: 60,315,724	S2459P	probably damaging	Het
Cdk5rap3	A	T	11: 96,913,465	C21S	probably damaging	Het
Chmp6	G	A	11: 119,916,986	E72K	probably benign	Het
Cldn23	T	C	8: 35,825,662	Y224C	probably damaging	Het
Cry1	C	T	10: 85,146,474	G336D	probably damaging	Het
Cyp4f17	T	A	17: 32,506,982	F30I	probably benign	Het
Dgcr8	T	A	16: 18,278,336	D496V	probably damaging	Het
Dhx9	A	G	1: 153,468,868		probably benign	Het
Dnah10	C	T	5: 124,743,737		probably benign	Het
Dock9	T	C	14: 121,622,870	E880G	possibly damaging	Het
Dscam	A	G	16: 96,654,936	V1264A	probably damaging	Het
Eno1	T	C	4: 150,246,710	Y270H	probably benign	Het
Eprs	A	G	1: 185,384,915	D385G	probably damaging	Het
Ercc2	A	G	7: 19,390,421	Y215C	probably damaging	Het
Fam208b	G	A	13: 3,576,633	P1106S	probably benign	Het
Fscn2	A	G	11: 120,367,750	N400S	possibly damaging	Het
Fuca1	C	T	4: 135,939,201	T449I	probably benign	Het
Gm43638	T	C	5: 87,465,431	K492E	probably damaging	Het
Gm4778	T	A	3: 94,266,484	D262E	probably benign	Het
Gm5263	T	G	1: 146,420,564		noncoding transcript	Het
Gm8122	T	C	14: 43,232,701	T111A	unknown	Het
Gtf3c2	T	A	5: 31,157,635	N923Y	probably benign	Het
Il17a	T	A	1: 20,733,640	D86E	probably benign	Het
Itgb2l	G	T	16: 96,430,575	N330K	probably benign	Het
Kcnj11	T	C	7: 46,099,065	H278R	probably benign	Het
Khdrbs2	T	A	1: 32,619,176	Y272*	probably null	Het
Kndc1	A	T	7: 139,930,046	Q1267L	probably damaging	Het
Loxhd1	T	A	18: 77,286,424	F64I	possibly damaging	Het
Lrig2	T	A	3: 104,491,545	K222N	probably benign	Het
Lrrcc1	T	A	3: 14,547,272	Y378N	probably damaging	Het
Mblac2	T	C	13: 81,750,315	L270P	probably damaging	Het
Med13	A	T	11: 86,319,783	I511N	probably benign	Het
Myo3a	A	T	2: 22,423,222	E763D	probably damaging	Het
Olfr1240	C	T	2: 89,439,800	V160I	probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1447	T	A	19: 12,901,748	T11S	probably benign	Het
Olfr384	T	A	11: 73,603,032	F151I	probably benign	Het
Olfr845	G	A	9: 19,339,302	V281I	possibly damaging	Het
Plxna4	T	A	6: 32,237,678	I623F	possibly damaging	Het
Ppp2ca	T	A	11: 52,118,055	Y127*	probably null	Het
Psg18	A	G	7: 18,353,397	V112A	possibly damaging	Het
Ptprj	A	T	2: 90,469,574	N108K	probably benign	Het
Rictor	A	G	15: 6,777,384	Y707C	probably damaging	Het
Rptn	T	C	3: 93,395,639	F93S	probably benign	Het
Rxrg	T	A	1: 167,627,315	C156S	probably damaging	Het
Slc24a4	T	C	12: 102,223,687		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slx4	T	C	16: 3,990,248	K481E	probably benign	Het
Snx19	T	C	9: 30,463,264	W940R	possibly damaging	Het
Treml2	T	C	17: 48,302,810	V90A	probably benign	Het
Uckl1	C	T	2: 181,569,534	V501M	probably damaging	Het
Unc79	C	T	12: 103,141,997	T1937I	probably damaging	Het
Vmn2r17	A	T	5: 109,420,037	I9F	probably benign	Het
Vmn2r44	T	C	7: 8,380,238	H119R	probably benign	Het
Vmn2r78	A	G	7: 86,954,435	D607G	probably benign	Het
Vps13a	C	T	19: 16,663,894	G2288D	probably damaging	Het
Znfx1	G	T	2: 167,055,723	T427N	probably damaging	Het

Other mutations in Tcf20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Tcf20	APN	15	82854895	missense	probably damaging	1.00
IGL00229:Tcf20	APN	15	82857142	missense	possibly damaging	0.50
IGL00539:Tcf20	APN	15	82852756	missense	probably benign	0.41
IGL00576:Tcf20	APN	15	82856075	missense	probably damaging	1.00
IGL01135:Tcf20	APN	15	82853900	missense	probably benign
IGL01670:Tcf20	APN	15	82855363	missense	possibly damaging	0.77
IGL01684:Tcf20	APN	15	82857160	missense	probably damaging	1.00
IGL01825:Tcf20	APN	15	82852966	missense	probably benign
IGL01834:Tcf20	APN	15	82855697	missense	probably damaging	0.99
IGL01836:Tcf20	APN	15	82855155	missense	probably damaging	0.99
IGL02415:Tcf20	APN	15	82853459	missense	probably benign	0.28
IGL02731:Tcf20	APN	15	82853237	missense	probably benign	0.00
IGL02739:Tcf20	APN	15	82856080	missense	probably damaging	1.00
IGL03058:Tcf20	APN	15	82852004	missense	probably damaging	0.96
PIT4131001:Tcf20	UTSW	15	82851584	missense	probably damaging	0.96
R0184:Tcf20	UTSW	15	82852300	missense	probably damaging	0.99
R0207:Tcf20	UTSW	15	82855085	missense	probably benign
R0732:Tcf20	UTSW	15	82852303	missense	probably benign	0.07
R1502:Tcf20	UTSW	15	82855576	missense	probably damaging	1.00
R1575:Tcf20	UTSW	15	82855492	missense	probably benign	0.19
R1719:Tcf20	UTSW	15	82852777	missense	probably benign	0.03
R1997:Tcf20	UTSW	15	82857230	nonsense	probably null
R2152:Tcf20	UTSW	15	82855602	missense	probably damaging	1.00
R2173:Tcf20	UTSW	15	82854692	missense	possibly damaging	0.62
R2288:Tcf20	UTSW	15	82851685	missense	probably benign
R4049:Tcf20	UTSW	15	82853429	missense	probably damaging	1.00
R4496:Tcf20	UTSW	15	82854984	missense	probably damaging	1.00
R4704:Tcf20	UTSW	15	82851727	missense	possibly damaging	0.49
R4892:Tcf20	UTSW	15	82854199	missense	possibly damaging	0.80
R5164:Tcf20	UTSW	15	82856603	missense	probably damaging	1.00
R5207:Tcf20	UTSW	15	82856185	missense	probably damaging	0.98
R5219:Tcf20	UTSW	15	82856381	missense	probably damaging	1.00
R5228:Tcf20	UTSW	15	82855955	missense	probably benign	0.01
R5288:Tcf20	UTSW	15	82855709	missense	possibly damaging	0.50
R5374:Tcf20	UTSW	15	82851957	missense	probably damaging	0.99
R5384:Tcf20	UTSW	15	82856199	missense	probably damaging	0.99
R5677:Tcf20	UTSW	15	82853242	missense	probably benign	0.05
R5897:Tcf20	UTSW	15	82851783	nonsense	probably null
R6089:Tcf20	UTSW	15	82853208	missense	probably benign	0.06
R6196:Tcf20	UTSW	15	82851986	missense	possibly damaging	0.89
R6229:Tcf20	UTSW	15	82854880	missense	probably damaging	1.00
R6448:Tcf20	UTSW	15	82852660	missense	probably benign
R6688:Tcf20	UTSW	15	82854535	missense	possibly damaging	0.68
R7009:Tcf20	UTSW	15	82854682	missense	probably benign	0.07
R7051:Tcf20	UTSW	15	82856078	missense	probably damaging	1.00
R7215:Tcf20	UTSW	15	82853489	missense	probably benign
R7486:Tcf20	UTSW	15	82853734	missense	possibly damaging	0.78
R7583:Tcf20	UTSW	15	82855276	missense	possibly damaging	0.82
R7678:Tcf20	UTSW	15	82851565	missense	possibly damaging	0.92
R8090:Tcf20	UTSW	15	82856006	missense	probably damaging	1.00
R8156:Tcf20	UTSW	15	82852937	missense	probably benign	0.00
R8191:Tcf20	UTSW	15	82853405	nonsense	probably null
R8259:Tcf20	UTSW	15	82852273	missense	probably damaging	1.00
R8339:Tcf20	UTSW	15	82852676	missense	probably benign	0.04
R8447:Tcf20	UTSW	15	82853236	missense	possibly damaging	0.77
R8497:Tcf20	UTSW	15	82855951	missense	probably benign	0.07
R8728:Tcf20	UTSW	15	82854957	missense	probably damaging	1.00
R8829:Tcf20	UTSW	15	82855714	missense	probably damaging	1.00
R8861:Tcf20	UTSW	15	82852525	missense	probably damaging	0.99
R9177:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9268:Tcf20	UTSW	15	82856504	missense	probably benign	0.00
R9294:Tcf20	UTSW	15	82852696	missense	probably benign	0.11
R9648:Tcf20	UTSW	15	82855675	missense	probably damaging	1.00
R9675:Tcf20	UTSW	15	82856785	missense	probably damaging	1.00
R9729:Tcf20	UTSW	15	82851836	missense	probably benign	0.25
RF019:Tcf20	UTSW	15	82851593	missense	probably benign	0.00

Posted On

2014-02-04