Incidental Mutation 'IGL02225:Hnf1b'
| ID |
285313 |
| 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 # |
IGL02225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83741035-83796743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83752611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 82
(L82P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021016]
[ENSMUST00000108113]
[ENSMUST00000108114]
[ENSMUST00000146786]
|
| AlphaFold |
P27889 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021016
AA Change: L205P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: L205P
| 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 damaging
Transcript: ENSMUST00000108113
AA Change: L82P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: L82P
| 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 benign
Transcript: ENSMUST00000108114
|
| SMART Domains |
Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
| 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: 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
| Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
| Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
| Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
| Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
| Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
| Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
| Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
| Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
| Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
| Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
| Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
| Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
| Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
| Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
| Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
| Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
| Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
| Tbrg4 |
C |
A |
11: 6,574,094 (GRCm39) |
V43F |
probably damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
| Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
| Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
| Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
| Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
Het |
|
| Other mutations in Hnf1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Hnf1b
|
APN |
11 |
83,746,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation