Mutagenetix > Incidental Mutation

Incidental Mutation 'R8831:Tcf19'

673867

Institutional Source

Beutler Lab

Gene Symbol

Tcf19

Ensembl Gene

ENSMUSG00000050410

Gene Name

transcription factor 19

Synonyms

5730403J10Rik

MMRRC Submission

068659-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35823631-35827721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35825794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 121 (M121K)

Ref Sequence

ENSEMBL: ENSMUSP00000125167 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000046612
Gene: ENSMUSG00000040312

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159009
AA Change: M121K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410
AA Change: M121K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160885
AA Change: M121K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410
AA Change: M121K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161012
AA Change: M121K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410
AA Change: M121K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162683
AA Change: M121K

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410
AA Change: M121K

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: ENSMUST00000164242

SMART Domains

Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312

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

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: 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: 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: 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: 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 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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Abcg5	G	T	17: 84,976,423 (GRCm39)	H471Q	probably damaging	Het
Actl6b	G	A	5: 137,565,305 (GRCm39)	R363Q	probably damaging	Het
Adcy1	T	A	11: 7,111,362 (GRCm39)	D884E	probably benign	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Amdhd2	A	G	17: 24,376,712 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Atrn	T	C	2: 130,748,521 (GRCm39)	L14P	probably benign	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Cd300c2	A	T	11: 114,891,844 (GRCm39)	C39*	probably null	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cplane1	T	C	15: 8,211,620 (GRCm39)	I320T	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Defb25	C	A	2: 152,464,899 (GRCm39)	V17L	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dhx30	A	G	9: 109,917,319 (GRCm39)	S399P	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Ercc6	T	A	14: 32,282,784 (GRCm39)		probably null	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fgf10	A	G	13: 118,925,671 (GRCm39)	D150G	probably damaging	Het
Flii	A	T	11: 60,616,074 (GRCm39)	N28K	probably benign	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gfra2	A	T	14: 71,204,503 (GRCm39)	N324I	probably benign	Het
Gm10308	A	G	17: 91,396,431 (GRCm39)	R118G	unknown	Het
Gm10801	T	A	2: 98,494,334 (GRCm39)	V137E	probably damaging	Het
Hmmr	G	A	11: 40,612,499 (GRCm39)	S206F	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Il6st	G	T	13: 112,640,914 (GRCm39)	D897Y	probably damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Kidins220	A	T	12: 25,086,454 (GRCm39)	I963L	possibly damaging	Het
Mdm4	T	C	1: 132,931,601 (GRCm39)	R148G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Necab3	A	T	2: 154,396,607 (GRCm39)	L107Q	probably damaging	Het
Nkx2-4	G	A	2: 146,927,114 (GRCm39)	P51L	probably benign	Het
Nol11	T	C	11: 107,067,662 (GRCm39)	T388A	probably benign	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Nr1h3	C	A	2: 91,021,091 (GRCm39)	R232L	probably benign	Het
Nrcam	T	A	12: 44,591,680 (GRCm39)		probably null	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or52s1b	T	A	7: 102,822,203 (GRCm39)	I214L	probably benign	Het
Pabpn1	T	C	14: 55,131,914 (GRCm39)	V101A	probably damaging	Het
Pcare	A	T	17: 72,059,305 (GRCm39)	V124E	probably benign	Het
Pcbp2	A	G	15: 102,394,453 (GRCm39)	D217G	probably benign	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Plcg1	G	C	2: 160,589,732 (GRCm39)	K85N	probably benign	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Prmt3	A	G	7: 49,478,729 (GRCm39)	E430G	probably null	Het
Prx	G	T	7: 27,217,538 (GRCm39)	V819F	probably damaging	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Rab6a	T	C	7: 100,283,931 (GRCm39)	Y128H	probably benign	Het
Rgs2	T	C	1: 143,877,497 (GRCm39)	Y186C	probably damaging	Het
Rhbdl1	C	T	17: 26,053,857 (GRCm39)	V342M	probably damaging	Het
Rpn1	A	G	6: 88,061,775 (GRCm39)	Q88R	probably benign	Het
Slc19a2	C	T	1: 164,084,443 (GRCm39)	T111M	probably damaging	Het
Slc35e4	G	A	11: 3,863,087 (GRCm39)	P34L	possibly damaging	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Susd1	C	T	4: 59,379,594 (GRCm39)		probably benign	Het
Tcp11	G	A	17: 28,299,193 (GRCm39)	R21C	probably damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem127	T	A	2: 127,098,979 (GRCm39)	V171D	probably damaging	Het
Tyrp1	G	A	4: 80,753,399 (GRCm39)	C30Y	probably damaging	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vamp4	T	A	1: 162,401,952 (GRCm39)	D11E	possibly damaging	Het
Vmn1r14	T	C	6: 57,210,505 (GRCm39)	F28L	probably benign	Het
Vmn2r69	G	T	7: 85,059,018 (GRCm39)	C514*	probably null	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zhx3	T	A	2: 160,622,691 (GRCm39)	Y492F	probably benign	Het

Other mutations in Tcf19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Tcf19	APN	17	35,825,380 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GGAATTGAGAATCAGTGTGGCC -3'
(R):5'- CCAACAAAGCTTGCATGTGAG -3'

Sequencing Primer
(F):5'- AGAATCAGTGTGGCCTTGGG -3'
(R):5'- GCCAGCCAGATCATGTTAATTCTGAC -3'

Posted On

2021-07-15