Incidental Mutation 'IGL03053:Hnf1a'
| ID |
409147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hnf1a
|
| Ensembl Gene |
ENSMUSG00000029556 |
| Gene Name |
HNF1 homeobox A |
| Synonyms |
hepatocyte nuclear factor 1, Tcf1, HNF1, HNF1[a], Hnf-1, HNF1-alpha, LFB1, Hnf1alpha |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
IGL03053
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115087039-115109121 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115108792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 38
(M38L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031535]
[ENSMUST00000176550]
[ENSMUST00000176911]
|
| AlphaFold |
P22361 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031535
AA Change: M38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031535
Gene: ENSMUSG00000029556
AA Change: M38L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
8 |
168 |
4e-57 |
PFAM |
|
HOX
|
199 |
282 |
1.85e-7 |
SMART |
|
low complexity region
|
288 |
297 |
N/A |
INTRINSIC |
|
Blast:HOX
|
394 |
439 |
7e-20 |
BLAST |
|
Pfam:HNF-1A_C
|
540 |
627 |
3.4e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125010
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129609
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176550
AA Change: M38L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135678
Gene: ENSMUSG00000029556
AA Change: M38L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
176 |
4e-86 |
PFAM |
|
Blast:HOX
|
199 |
238 |
2e-20 |
BLAST |
|
SCOP:d1lfb__
|
203 |
238 |
2e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176911
AA Change: M38L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135539
Gene: ENSMUSG00000029556
AA Change: M38L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNF-1_N
|
1 |
118 |
6.4e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184027
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [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 |
|---|
| Acot11 |
G |
A |
4: 106,613,050 (GRCm39) |
Q342* |
probably null |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,105,923 (GRCm39) |
T914I |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,872,967 (GRCm39) |
R409C |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| C1qtnf12 |
A |
T |
4: 156,050,921 (GRCm39) |
N297Y |
probably damaging |
Het |
| Cgas |
A |
T |
9: 78,344,719 (GRCm39) |
F234Y |
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,336,170 (GRCm39) |
V112A |
probably benign |
Het |
| Ehd3 |
A |
G |
17: 74,112,437 (GRCm39) |
Y67C |
probably damaging |
Het |
| Elavl4 |
A |
T |
4: 110,108,691 (GRCm39) |
S16T |
possibly damaging |
Het |
| F2rl1 |
A |
C |
13: 95,650,126 (GRCm39) |
V252G |
probably benign |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,905,564 (GRCm39) |
N793S |
probably benign |
Het |
| Kit |
A |
G |
5: 75,771,574 (GRCm39) |
N244D |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,814,276 (GRCm39) |
E60G |
possibly damaging |
Het |
| Obsl1 |
T |
C |
1: 75,469,723 (GRCm39) |
H1098R |
probably benign |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4c123 |
A |
C |
2: 89,126,789 (GRCm39) |
I275S |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,206 (GRCm39) |
R234G |
possibly damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,281,664 (GRCm39) |
I42T |
probably damaging |
Het |
| Prkd2 |
A |
G |
7: 16,584,188 (GRCm39) |
D347G |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,457,362 (GRCm39) |
|
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,783,387 (GRCm39) |
D734E |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,737 (GRCm39) |
K619E |
probably benign |
Het |
| Tnfrsf26 |
T |
C |
7: 143,168,597 (GRCm39) |
D147G |
possibly damaging |
Het |
| Ufl1 |
A |
G |
4: 25,275,833 (GRCm39) |
I110T |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,933 (GRCm39) |
S151P |
possibly damaging |
Het |
| Vmn2r25 |
T |
C |
6: 123,800,077 (GRCm39) |
Y755C |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably damaging |
Het |
| Zng1 |
T |
A |
19: 24,932,741 (GRCm39) |
E97D |
probably damaging |
Het |
| Zzef1 |
G |
T |
11: 72,722,365 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hnf1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01798:Hnf1a
|
APN |
5 |
115,091,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Hnf1a
|
APN |
5 |
115,098,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Hnf1a
|
UTSW |
5 |
115,088,747 (GRCm39) |
splice site |
probably benign |
|
|
R0543:Hnf1a
|
UTSW |
5 |
115,088,803 (GRCm39) |
missense |
probably benign |
|
|
R1498:Hnf1a
|
UTSW |
5 |
115,108,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Hnf1a
|
UTSW |
5 |
115,098,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Hnf1a
|
UTSW |
5 |
115,108,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Hnf1a
|
UTSW |
5 |
115,098,070 (GRCm39) |
splice site |
probably null |
|
|
R2898:Hnf1a
|
UTSW |
5 |
115,098,106 (GRCm39) |
nonsense |
probably null |
|
|
R4050:Hnf1a
|
UTSW |
5 |
115,108,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Hnf1a
|
UTSW |
5 |
115,093,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Hnf1a
|
UTSW |
5 |
115,093,311 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4873:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4875:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6488:Hnf1a
|
UTSW |
5 |
115,094,020 (GRCm39) |
missense |
probably benign |
|
|
R7134:Hnf1a
|
UTSW |
5 |
115,091,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7999:Hnf1a
|
UTSW |
5 |
115,098,233 (GRCm39) |
nonsense |
probably null |
|
|
R8085:Hnf1a
|
UTSW |
5 |
115,108,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8093:Hnf1a
|
UTSW |
5 |
115,093,336 (GRCm39) |
missense |
probably benign |
|
|
R8360:Hnf1a
|
UTSW |
5 |
115,091,391 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8539:Hnf1a
|
UTSW |
5 |
115,108,576 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9047:Hnf1a
|
UTSW |
5 |
115,088,882 (GRCm39) |
missense |
probably benign |
|
|
X0067:Hnf1a
|
UTSW |
5 |
115,093,539 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Z1176:Hnf1a
|
UTSW |
5 |
115,088,183 (GRCm39) |
frame shift |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation