Incidental Mutation 'R2408:Hnf1a'
| ID |
248094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnf1a
|
| Ensembl Gene |
ENSMUSG00000029556 |
| Gene Name |
HNF1 homeobox A |
| Synonyms |
hepatocyte nuclear factor 1, Tcf1, HNF1, HNF1[a], Hnf-1, HNF1-alpha, LFB1, Hnf1alpha |
| MMRRC Submission |
040374-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R2408 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
115087039-115109121 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 115098070 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031535]
[ENSMUST00000176550]
[ENSMUST00000176911]
|
| AlphaFold |
P22361 |
| PDB Structure |
CRYSTAL STRUCTURE OF A COMPLEX BETWEEN THE DIMERIZATION DOMAIN OF HNF-1 ALPHA AND THE COACTIVATOR DCOH [X-RAY DIFFRACTION]
HNF-1ALPHA DIMERIZATION DOMAIN, WITH SELENOMETHIONINE SUBSTITUED AT LEU 12 [X-RAY DIFFRACTION]
DIMERIZATION DOMAIN OF HNF-1ALPHA WITH A LEU 13 SELENOMETHIONINE SUBSTITUTION [X-RAY DIFFRACTION]
WILD-TYPE HNF-1ALPHA DIMERIZATION DOMAIN [X-RAY DIFFRACTION]
Crystal Structure of Dimerization Domain (1-33) of HNF-1alpha [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000031535
|
| SMART Domains |
Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
8 |
168 |
4e-57 |
PFAM |
|
HOX
|
199 |
282 |
1.85e-7 |
SMART |
|
low complexity region
|
288 |
297 |
N/A |
INTRINSIC |
|
Blast:HOX
|
394 |
439 |
7e-20 |
BLAST |
|
Pfam:HNF-1A_C
|
540 |
627 |
3.4e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176550
|
| SMART Domains |
Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
176 |
4e-86 |
PFAM |
|
Blast:HOX
|
199 |
238 |
2e-20 |
BLAST |
|
SCOP:d1lfb__
|
203 |
238 |
2e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176911
|
| SMART Domains |
Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
118 |
6.4e-32 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg1 |
T |
G |
8: 95,730,121 (GRCm39) |
L103V |
probably null |
Het |
| BC051076 |
C |
T |
5: 88,111,684 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc191 |
A |
T |
16: 43,751,561 (GRCm39) |
Q239L |
probably benign |
Het |
| Dennd4b |
G |
T |
3: 90,178,882 (GRCm39) |
G538* |
probably null |
Het |
| Dipk1a |
T |
C |
5: 108,062,291 (GRCm39) |
D78G |
possibly damaging |
Het |
| Dusp7 |
C |
T |
9: 106,246,361 (GRCm39) |
A122V |
probably benign |
Het |
| Exd2 |
T |
G |
12: 80,531,015 (GRCm39) |
|
probably benign |
Het |
| Gm10782 |
C |
A |
13: 56,510,944 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl1 |
T |
A |
12: 108,284,806 (GRCm39) |
D386E |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,583,198 (GRCm39) |
F340S |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,249,476 (GRCm39) |
D541G |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,663,456 (GRCm39) |
L1218Q |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,264,095 (GRCm39) |
D136G |
probably damaging |
Het |
| Nbl1 |
C |
T |
4: 138,810,843 (GRCm39) |
C117Y |
probably damaging |
Het |
| Niban2 |
A |
G |
2: 32,813,482 (GRCm39) |
Y565C |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,132,710 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,044,301 (GRCm39) |
M417K |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,748,277 (GRCm39) |
E3G |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,152,902 (GRCm39) |
S60P |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,832,575 (GRCm39) |
Y197C |
probably damaging |
Het |
| Tmem222 |
T |
C |
4: 132,998,335 (GRCm39) |
H73R |
possibly damaging |
Het |
| Trmt1l |
G |
A |
1: 151,315,267 (GRCm39) |
G151D |
possibly damaging |
Het |
| Ttc16 |
A |
G |
2: 32,658,020 (GRCm39) |
F409L |
probably benign |
Het |
| Ubap2l |
T |
C |
3: 89,916,439 (GRCm39) |
Q925R |
probably null |
Het |
| Ucn3 |
T |
G |
13: 3,991,413 (GRCm39) |
I80L |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,372,517 (GRCm39) |
S302P |
probably benign |
Het |
| Zfp804b |
A |
T |
5: 7,229,410 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,848,937 (GRCm39) |
E144G |
possibly damaging |
Het |
|
| Other mutations in Hnf1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Hnf1a
|
APN |
5 |
115,091,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Hnf1a
|
APN |
5 |
115,098,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03053:Hnf1a
|
APN |
5 |
115,108,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0522:Hnf1a
|
UTSW |
5 |
115,088,747 (GRCm39) |
splice site |
probably benign |
|
|
R0543:Hnf1a
|
UTSW |
5 |
115,088,803 (GRCm39) |
missense |
probably benign |
|
|
R1498:Hnf1a
|
UTSW |
5 |
115,108,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Hnf1a
|
UTSW |
5 |
115,098,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Hnf1a
|
UTSW |
5 |
115,108,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2898:Hnf1a
|
UTSW |
5 |
115,098,106 (GRCm39) |
nonsense |
probably null |
|
|
R4050:Hnf1a
|
UTSW |
5 |
115,108,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Hnf1a
|
UTSW |
5 |
115,093,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Hnf1a
|
UTSW |
5 |
115,093,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4873:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6488:Hnf1a
|
UTSW |
5 |
115,094,020 (GRCm39) |
missense |
probably benign |
|
|
R7134:Hnf1a
|
UTSW |
5 |
115,091,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Hnf1a
|
UTSW |
5 |
115,098,233 (GRCm39) |
nonsense |
probably null |
|
|
R8085:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Hnf1a
|
UTSW |
5 |
115,093,336 (GRCm39) |
missense |
probably benign |
|
|
R8360:Hnf1a
|
UTSW |
5 |
115,091,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8539:Hnf1a
|
UTSW |
5 |
115,108,576 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9047:Hnf1a
|
UTSW |
5 |
115,088,882 (GRCm39) |
missense |
probably benign |
|
|
X0067:Hnf1a
|
UTSW |
5 |
115,093,539 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Hnf1a
|
UTSW |
5 |
115,088,183 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCAGCAGAGAGTGAGTTCC -3'
(R):5'- AAGTCGTACTTGCAGCAGC -3'
Sequencing Primer
(F):5'- AGGACCCCAGTGTGTGTAC -3'
(R):5'- GCAGCAGCACAACATCCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation