Incidental Mutation 'R7931:Tcf19'
ID 643619
Institutional Source Beutler Lab
Gene Symbol Tcf19
Ensembl Gene ENSMUSG00000050410
Gene Name transcription factor 19
Synonyms 5730403J10Rik
MMRRC Submission 045978-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7931 (G1)
Quality Score 999
Status Validated
Chromosome 17
Chromosomal Location 35823631-35827721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35825804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 118 (F118L)
Ref Sequence ENSEMBL: ENSMUSP00000125167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025271] [ENSMUST00000045956] [ENSMUST00000159009] [ENSMUST00000160885] [ENSMUST00000161012] [ENSMUST00000162683] [ENSMUST00000172651] [ENSMUST00000173256] [ENSMUST00000173805] [ENSMUST00000173934] [ENSMUST00000174782] [ENSMUST00000164242] [ENSMUST00000173903]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025271
SMART Domains Protein: ENSMUSP00000025271
Gene: ENSMUSG00000024406

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159009
AA Change: F118L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124449
Gene: ENSMUSG00000050410
AA Change: F118L

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000160885
AA Change: F118L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125167
Gene: ENSMUSG00000050410
AA Change: F118L

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161012
AA Change: F118L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125310
Gene: ENSMUSG00000050410
AA Change: F118L

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162683
AA Change: F118L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125659
Gene: ENSMUSG00000050410
AA Change: F118L

DomainStartEndE-ValueType
low complexity region 11 16 N/A INTRINSIC
FHA 30 88 8.28e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172651
SMART Domains Protein: ENSMUSP00000134654
Gene: ENSMUSG00000024406

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
POU 25 99 2.88e-47 SMART
Pfam:Homeobox 118 157 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164242
SMART Domains Protein: ENSMUSP00000132028
Gene: ENSMUSG00000040312

DomainStartEndE-ValueType
Pfam:HCR 27 767 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173903
SMART Domains Protein: ENSMUSP00000133407
Gene: ENSMUSG00000040312

DomainStartEndE-ValueType
Pfam:HCR 110 855 N/A PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 A T 2: 91,037,060 (GRCm39) probably null Het
Aire G A 10: 77,866,130 (GRCm39) A536V probably damaging Het
Aox4 A G 1: 58,294,645 (GRCm39) I951M probably benign Het
Ash1l G T 3: 88,950,848 (GRCm39) C2190F probably damaging Het
C1s1 C T 6: 124,510,359 (GRCm39) V363M probably damaging Het
Col7a1 C A 9: 108,809,590 (GRCm39) probably benign Het
Coq10b A G 1: 55,092,152 (GRCm39) probably benign Het
Diaph3 A T 14: 87,352,456 (GRCm39) D48E possibly damaging Het
Dnajc13 A G 9: 104,095,763 (GRCm39) V559A probably benign Het
Dzank1 T C 2: 144,323,614 (GRCm39) I610V probably benign Het
F7 A G 8: 13,085,209 (GRCm39) I412V probably benign Het
Flt1 A G 5: 147,525,382 (GRCm39) S919P probably damaging Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gria1 A G 11: 57,201,351 (GRCm39) probably benign Het
Hoxa13 G GCA 6: 52,237,620 (GRCm39) probably null Het
Igkv4-70 C A 6: 69,244,975 (GRCm39) R82L probably damaging Het
Lnp1 T A 16: 56,748,281 (GRCm39) R4* probably null Het
Lrrc3b T C 14: 15,358,018 (GRCm38) N196S probably benign Het
Mlxip A G 5: 123,588,558 (GRCm39) D816G probably damaging Het
Myh7 C T 14: 55,221,119 (GRCm39) E935K possibly damaging Het
Myom3 A T 4: 135,516,947 (GRCm39) H839L probably benign Het
Nebl C T 2: 17,381,433 (GRCm39) probably null Het
Ninj1 T C 13: 49,347,432 (GRCm39) I99T probably damaging Het
Nvl C T 1: 180,936,720 (GRCm39) probably benign Het
Or11g1 A C 14: 50,651,786 (GRCm39) M262L probably damaging Het
Or2l5 A G 16: 19,334,258 (GRCm39) S43P possibly damaging Het
Or4a76 T A 2: 89,460,448 (GRCm39) I265F possibly damaging Het
Or8g55 A T 9: 39,785,146 (GRCm39) T192S possibly damaging Het
Otop1 A G 5: 38,445,364 (GRCm39) H174R probably damaging Het
Pcdhb16 A G 18: 37,611,510 (GRCm39) N157D possibly damaging Het
Prss44 A C 9: 110,643,746 (GRCm39) Q130P probably damaging Het
Ptprh C A 7: 4,574,987 (GRCm39) S344I probably benign Het
Rps6kl1 T C 12: 85,196,566 (GRCm39) I33V possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scn1a T C 2: 66,148,156 (GRCm39) S110G probably damaging Het
Sdk2 C A 11: 113,784,267 (GRCm39) K157N possibly damaging Het
Serpina1d A T 12: 103,733,815 (GRCm39) V163D probably damaging Het
Serpina3g T C 12: 104,205,428 (GRCm39) S56P probably benign Het
Slc4a4 T C 5: 89,318,640 (GRCm39) L636P probably benign Het
Slc6a1 T C 6: 114,288,863 (GRCm39) F474S probably benign Het
Slco6d1 A G 1: 98,356,141 (GRCm39) D235G probably damaging Het
Srgn A T 10: 62,330,763 (GRCm39) M114K possibly damaging Het
Syne3 A T 12: 104,929,491 (GRCm39) V243E probably damaging Het
Tbc1d5 T C 17: 51,106,892 (GRCm39) probably benign Het
Tln2 A T 9: 67,165,742 (GRCm39) probably null Het
Tnxb A G 17: 34,907,672 (GRCm39) T1239A probably damaging Het
Traip A G 9: 107,848,241 (GRCm39) I453M probably benign Het
Usp5 T C 6: 124,801,409 (GRCm39) probably benign Het
Vmn1r157 C T 7: 22,461,210 (GRCm39) A30V probably damaging Het
Vmn1r233 G A 17: 21,214,125 (GRCm39) A275V probably benign Het
Vps13d G A 4: 144,822,854 (GRCm39) R2976* probably null Het
Wdr75 T C 1: 45,858,795 (GRCm39) F655L probably benign Het
Wwp1 A G 4: 19,650,114 (GRCm39) probably null Het
Zc3h4 T C 7: 16,166,909 (GRCm39) L747P unknown Het
Zfp268 G A 4: 145,349,126 (GRCm39) D188N possibly damaging Het
Other mutations in Tcf19
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- GAGAATCAGTGTGGCCTTGG -3'
(R):5'- AGCCAACAAAGCTTGCATGTG -3'

Sequencing Primer
(F):5'- CCTTGGGGGCAGAGGAG -3'
(R):5'- GCCAGCCAGATCATGTTAATTCTGAC -3'
Posted On 2020-08-07