Incidental Mutation 'IGL00801:Hnf1b'
| ID |
11302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hnf1b
|
| Ensembl Gene |
ENSMUSG00000020679 |
| Gene Name |
HNF1 homeobox B |
| Synonyms |
Hnf1beta, Tcf-2, Tcf2, HNF-1Beta, vHNF1, LFB3, hepatocyte nuclear factor-1 beta |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00801
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83741035-83796743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83746750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 122
(A122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021016]
[ENSMUST00000108113]
[ENSMUST00000108114]
[ENSMUST00000135975]
[ENSMUST00000146786]
|
| AlphaFold |
P27889 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021016
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: A122V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
8 |
174 |
4.5e-67 |
PFAM |
|
HOX
|
231 |
314 |
2.84e-8 |
SMART |
|
low complexity region
|
334 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
550 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108113
|
| SMART Domains |
Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
59 |
9.2e-42 |
PFAM |
|
HOX
|
108 |
191 |
2.84e-8 |
SMART |
|
low complexity region
|
211 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108114
AA Change: A122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: A122V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
182 |
1.2e-85 |
PFAM |
|
HOX
|
205 |
288 |
2.84e-8 |
SMART |
|
low complexity region
|
308 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
512 |
524 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135975
|
| SMART Domains |
Protein: ENSMUSP00000117036
Gene: ENSMUSG00000020679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
68 |
1.2e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146786
|
| SMART Domains |
Protein: ENSMUSP00000123297
Gene: ENSMUSG00000020679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
59 |
2.5e-42 |
PFAM |
|
HOX
|
82 |
165 |
2.84e-8 |
SMART |
|
low complexity region
|
185 |
195 |
N/A |
INTRINSIC |
|
| 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 member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced size, impaired development of extraembryonic membranes, lack of visceral or parietal endoderm, and early post-implantation lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
C |
12: 72,928,160 (GRCm39) |
T524A |
possibly damaging |
Het |
| Abcb7 |
T |
C |
X: 103,339,584 (GRCm39) |
I562V |
possibly damaging |
Het |
| Anapc4 |
T |
A |
5: 53,014,553 (GRCm39) |
V472D |
probably damaging |
Het |
| Arhgef37 |
A |
G |
18: 61,632,905 (GRCm39) |
Y511H |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,892,767 (GRCm39) |
S316P |
possibly damaging |
Het |
| B3galt1 |
A |
T |
2: 67,948,320 (GRCm39) |
T12S |
possibly damaging |
Het |
| Ccn1 |
T |
A |
3: 145,354,365 (GRCm39) |
D182V |
probably damaging |
Het |
| Cdc14a |
G |
T |
3: 116,088,493 (GRCm39) |
S394* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,719,775 (GRCm39) |
V2458A |
probably benign |
Het |
| Dapk1 |
C |
T |
13: 60,909,062 (GRCm39) |
T1225I |
probably benign |
Het |
| Fyb1 |
A |
G |
15: 6,674,305 (GRCm39) |
K647R |
possibly damaging |
Het |
| Gabra5 |
C |
A |
7: 57,138,736 (GRCm39) |
W104L |
probably damaging |
Het |
| Gjb6 |
A |
T |
14: 57,361,498 (GRCm39) |
N254K |
possibly damaging |
Het |
| Golga4 |
T |
A |
9: 118,367,994 (GRCm39) |
L371Q |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,221,535 (GRCm39) |
R322Q |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,721,115 (GRCm39) |
L1089F |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,451,867 (GRCm39) |
V284A |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,566,605 (GRCm39) |
E2039K |
unknown |
Het |
| Myof |
A |
G |
19: 37,974,521 (GRCm39) |
I206T |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,319,526 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,815,704 (GRCm39) |
D586G |
probably benign |
Het |
| Nudt5 |
T |
C |
2: 5,871,168 (GRCm39) |
F166S |
probably damaging |
Het |
| Ociad1 |
T |
A |
5: 73,461,909 (GRCm39) |
Y87N |
probably damaging |
Het |
| Qtrt2 |
T |
C |
16: 43,701,552 (GRCm39) |
K3E |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,824,015 (GRCm39) |
V1627I |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,483,188 (GRCm39) |
M198L |
possibly damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,918,097 (GRCm39) |
M574V |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,953,454 (GRCm39) |
D957G |
probably damaging |
Het |
| Tmem198b |
A |
C |
10: 128,639,014 (GRCm39) |
L43R |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,961,557 (GRCm39) |
M627T |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,342,197 (GRCm39) |
F192S |
possibly damaging |
Het |
| Zfp961 |
T |
G |
8: 72,719,732 (GRCm39) |
M54R |
probably damaging |
Het |
|
| Other mutations in Hnf1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Hnf1b
|
APN |
11 |
83,773,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01406:Hnf1b
|
APN |
11 |
83,779,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02225:Hnf1b
|
APN |
11 |
83,752,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02370:Hnf1b
|
APN |
11 |
83,773,559 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02827:Hnf1b
|
APN |
11 |
83,746,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0606:Hnf1b
|
UTSW |
11 |
83,754,810 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1534:Hnf1b
|
UTSW |
11 |
83,784,409 (GRCm39) |
splice site |
probably benign |
|
|
R2484:Hnf1b
|
UTSW |
11 |
83,752,661 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5396:Hnf1b
|
UTSW |
11 |
83,746,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Hnf1b
|
UTSW |
11 |
83,754,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5935:Hnf1b
|
UTSW |
11 |
83,773,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Hnf1b
|
UTSW |
11 |
83,795,737 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6701:Hnf1b
|
UTSW |
11 |
83,779,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Hnf1b
|
UTSW |
11 |
83,779,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9371:Hnf1b
|
UTSW |
11 |
83,779,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9776:Hnf1b
|
UTSW |
11 |
83,784,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation