Incidental Mutation 'IGL02827:Hnf1b'
| ID |
361268 |
| 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 # |
IGL02827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83741035-83796743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83746752 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 123
(K123E)
|
| 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: K123E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021016
Gene: ENSMUSG00000020679
AA Change: K123E
| 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: K123E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103749
Gene: ENSMUSG00000020679
AA Change: K123E
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
| Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
| Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
| Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
| Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
| Or1f12 |
A |
G |
13: 21,721,528 (GRCm39) |
S216P |
probably benign |
Het |
| Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
| Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
| Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
| Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
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 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation