Incidental Mutation 'IGL00969:Hnf1b'
| ID |
28620 |
| 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 # |
IGL00969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83741035-83796743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83773526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 242
(T242A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103748
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021016]
[ENSMUST00000108113]
[ENSMUST00000108114]
|
| AlphaFold |
P27889 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021016
AA Change: T365A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: T365A
| 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: T242A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103748
Gene: ENSMUSG00000020679
AA Change: T242A
| 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: T339A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: T339A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
| Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
| Cdc40 |
A |
T |
10: 40,719,124 (GRCm39) |
V335E |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
| Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
| Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
| Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
| Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
| Igsf11 |
A |
T |
16: 38,829,279 (GRCm39) |
T117S |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,877 (GRCm39) |
D443G |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,211,410 (GRCm39) |
D473G |
probably benign |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
| Zc3h14 |
T |
A |
12: 98,725,102 (GRCm39) |
S255T |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,300,351 (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 |
|
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 |
2013-04-17 |
Incidental Mutation