Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Tcf19'

288872

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf19

Ensembl Gene

ENSMUSG00000050410

Gene Name

transcription factor 19

Synonyms

5730403J10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

35823631-35827721 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 35825380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000045956] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000164242] [ENSMUST00000172651] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000173903] [ENSMUST00000173256] [ENSMUST00000174782]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025271

SMART Domains

Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	39	49	N/A	INTRINSIC
low complexity region	72	85	N/A	INTRINSIC
POU	131	205	2.88e-47	SMART
HOX	223	285	4.75e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000045956

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312

Domain	Start	End	E-Value	Type
Pfam:HCR	27	767	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159009

SMART Domains

Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160885
AA Change: I259K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410
AA Change: I259K

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161012
AA Change: I259K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410
AA Change: I259K

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162683

SMART Domains

Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410

Domain	Start	End	E-Value	Type
low complexity region	11	16	N/A	INTRINSIC
FHA	30	88	8.28e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164242

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312

Domain	Start	End	E-Value	Type
Pfam:HCR	27	767	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175723

Predicted Effect

probably benign
Transcript: ENSMUST00000172651

SMART Domains

Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173805

SMART Domains

Protein: ENSMUSP00000133633
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173934

SMART Domains

Protein: ENSMUSP00000134729
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173903

SMART Domains

Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312

Domain	Start	End	E-Value	Type
Pfam:HCR	110	855	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173256

SMART Domains

Protein: ENSMUSP00000134060
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	1	74	1.3e-45	SMART
Pfam:Homeobox	93	132	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174782

SMART Domains

Protein: ENSMUSP00000134493
Gene: ENSMUSG00000024406

Domain	Start	End	E-Value	Type
POU	25	99	2.88e-47	SMART
Pfam:Homeobox	118	157	1.1e-8	PFAM

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 protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	Het

Other mutations in Tcf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB008:Tcf19	UTSW	17	35,825,804 (GRCm39)	missense	probably damaging	1.00
BB018:Tcf19	UTSW	17	35,825,804 (GRCm39)	missense	probably damaging	1.00
R0348:Tcf19	UTSW	17	35,826,801 (GRCm39)	splice site	probably null
R4002:Tcf19	UTSW	17	35,826,822 (GRCm39)	splice site	probably null
R7446:Tcf19	UTSW	17	35,825,428 (GRCm39)	missense	probably benign	0.01
R7931:Tcf19	UTSW	17	35,825,804 (GRCm39)	missense	probably damaging	1.00
R8679:Tcf19	UTSW	17	35,825,381 (GRCm39)	missense	probably benign
R8831:Tcf19	UTSW	17	35,825,794 (GRCm39)	missense	possibly damaging	0.87
R9213:Tcf19	UTSW	17	35,825,899 (GRCm39)	missense	probably damaging	0.98
R9275:Tcf19	UTSW	17	35,825,899 (GRCm39)	missense	probably damaging	0.98
R9623:Tcf19	UTSW	17	35,825,792 (GRCm39)	missense	probably damaging	1.00
X0064:Tcf19	UTSW	17	35,825,771 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16