Incidental Mutation 'IGL01406:Hnf1b'
| ID |
79805 |
| 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 # |
IGL01406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83741035-83796743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83779950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 402
(P402S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103749
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021016]
[ENSMUST00000108113]
[ENSMUST00000108114]
|
| AlphaFold |
P27889 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021016
AA Change: P428S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: P428S
| 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
AA Change: P305S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: P305S
| 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
AA Change: P402S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: P402S
| 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 |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,180,212 (GRCm39) |
Q558* |
probably null |
Het |
| Adam29 |
A |
T |
8: 56,324,874 (GRCm39) |
Y527N |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,351,046 (GRCm39) |
*3067W |
probably null |
Het |
| B3galt2 |
A |
T |
1: 143,522,844 (GRCm39) |
I327L |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,612,192 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,768,501 (GRCm39) |
A496E |
possibly damaging |
Het |
| Cdh16 |
A |
T |
8: 105,345,044 (GRCm39) |
I415N |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,798,622 (GRCm39) |
N188S |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,268,898 (GRCm39) |
D980G |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,823,539 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,374 (GRCm39) |
S917P |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,085,516 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gm3115 |
T |
A |
14: 4,087,137 (GRCm38) |
|
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,300 (GRCm39) |
R341* |
probably null |
Het |
| Krt75 |
T |
C |
15: 101,476,460 (GRCm39) |
Y435C |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,367,539 (GRCm39) |
Y578H |
probably damaging |
Het |
| Naa20 |
A |
G |
2: 145,757,726 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,566,836 (GRCm39) |
D565G |
probably damaging |
Het |
| Pgap1 |
C |
T |
1: 54,572,573 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,518,676 (GRCm39) |
R172H |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,338 (GRCm39) |
Y77C |
probably damaging |
Het |
| Spdye4b |
C |
T |
5: 143,188,166 (GRCm39) |
P220S |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,595,596 (GRCm39) |
D326V |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,510,132 (GRCm39) |
L706* |
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,837 (GRCm39) |
C150S |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,042,352 (GRCm39) |
D1187G |
possibly damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,444 (GRCm39) |
L83P |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,500 (GRCm39) |
|
probably benign |
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 |
|
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 |
2013-11-05 |
Incidental Mutation