Incidental Mutation 'R4209:Hnf4a'
| ID |
368339 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnf4a
|
| Ensembl Gene |
ENSMUSG00000017950 |
| Gene Name |
hepatic nuclear factor 4, alpha |
| Synonyms |
Nuclear receptor 2A1, Nr2a1, HNF-4, Tcf4, MODY1, Hnf4, Tcf14, HNF4 alpha |
| MMRRC Submission |
041038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4209 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
163348731-163414827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163410809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 378
(S378P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018094]
[ENSMUST00000109411]
|
| AlphaFold |
P49698 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018094
AA Change: S378P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000018094
Gene: ENSMUSG00000017950
AA Change: S378P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
57 |
128 |
7.83e-38 |
SMART |
|
HOLI
|
189 |
348 |
1.12e-47 |
SMART |
|
low complexity region
|
383 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109411
AA Change: S369P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105038
Gene: ENSMUSG00000017950
AA Change: S369P
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C4
|
48 |
119 |
7.83e-38 |
SMART |
|
HOLI
|
180 |
339 |
1.12e-47 |
SMART |
|
low complexity region
|
374 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
436 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0930 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a transcription factor involved in the development of the pancreas, liver, kidney, and intestines. The encoded protein also functions to maintain glucose homeostasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Nullizygous embryos show delayed growth and lethality, impaired gastrulation, abnormal primitive streak and mesoderm formation, ectoderm apoptosis, and extraembryonic tissue dysplasia. Mice expressing only the alpha1 isoform show glucose intolerance whereas mice expressing alpha7 show dyslipidemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,577 (GRCm39) |
Y350F |
probably damaging |
Het |
| Ahnak |
G |
A |
19: 8,979,964 (GRCm39) |
G416D |
probably damaging |
Het |
| Ap3b2 |
C |
A |
7: 81,126,884 (GRCm39) |
A289S |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,345,322 (GRCm39) |
T657K |
probably damaging |
Het |
| Bcl9 |
A |
G |
3: 97,117,269 (GRCm39) |
L475P |
probably damaging |
Het |
| Bean1 |
T |
A |
8: 104,940,566 (GRCm39) |
M1K |
probably null |
Het |
| Cand1 |
T |
A |
10: 119,047,463 (GRCm39) |
I676F |
probably benign |
Het |
| Casp3 |
G |
T |
8: 47,088,423 (GRCm39) |
D107Y |
probably damaging |
Het |
| Cops4 |
T |
A |
5: 100,695,352 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,415,397 (GRCm39) |
D626E |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,052,926 (GRCm39) |
S308G |
probably damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,616 (GRCm39) |
K323E |
probably damaging |
Het |
| Gm10272 |
T |
C |
10: 77,542,665 (GRCm39) |
V69A |
possibly damaging |
Het |
| Gtf2f1 |
A |
G |
17: 57,318,003 (GRCm39) |
V11A |
probably benign |
Het |
| Inpp5j |
T |
G |
11: 3,451,107 (GRCm39) |
H514P |
probably damaging |
Het |
| Irf8 |
T |
A |
8: 121,480,208 (GRCm39) |
Y149N |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,675,359 (GRCm39) |
W297* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mcpt8 |
G |
A |
14: 56,321,375 (GRCm39) |
H30Y |
probably damaging |
Het |
| Mycl |
G |
T |
4: 122,893,715 (GRCm39) |
V172L |
possibly damaging |
Het |
| Pcgf5 |
C |
A |
19: 36,414,740 (GRCm39) |
N26K |
possibly damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,266,328 (GRCm39) |
L111S |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,861,007 (GRCm39) |
D761G |
probably damaging |
Het |
| Sec11a |
A |
T |
7: 80,584,790 (GRCm39) |
I49N |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,505 (GRCm39) |
I30T |
probably benign |
Het |
| Slc22a21 |
A |
G |
11: 53,846,881 (GRCm39) |
S331P |
probably benign |
Het |
| Slc38a3 |
T |
G |
9: 107,532,547 (GRCm39) |
S358R |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,085,103 (GRCm39) |
N535D |
possibly damaging |
Het |
| Spns2 |
T |
C |
11: 72,345,012 (GRCm39) |
D492G |
probably benign |
Het |
| Tcn2 |
T |
C |
11: 3,872,114 (GRCm39) |
K338E |
possibly damaging |
Het |
| Tdp1 |
C |
A |
12: 99,864,588 (GRCm39) |
A243E |
probably damaging |
Het |
| Tex16 |
T |
A |
X: 111,030,640 (GRCm39) |
D1046E |
probably benign |
Het |
| Tmem120a |
T |
C |
5: 135,764,559 (GRCm39) |
N340S |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,413,214 (GRCm39) |
|
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,329,191 (GRCm39) |
L71P |
probably benign |
Het |
| Tube1 |
A |
G |
10: 39,020,930 (GRCm39) |
|
probably null |
Het |
| Urgcp |
C |
A |
11: 5,665,878 (GRCm39) |
G820V |
probably damaging |
Het |
| Veph1 |
A |
T |
3: 66,151,967 (GRCm39) |
L154Q |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,535 (GRCm39) |
V109A |
probably benign |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,004 (GRCm39) |
T205S |
possibly damaging |
Het |
| Wdsub1 |
G |
A |
2: 59,707,149 (GRCm39) |
P28S |
probably damaging |
Het |
| Ybx2 |
G |
T |
11: 69,826,767 (GRCm39) |
|
probably benign |
Het |
| Zfyve1 |
A |
T |
12: 83,621,909 (GRCm39) |
V162E |
probably damaging |
Het |
|
| Other mutations in Hnf4a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Hnf4a
|
APN |
2 |
163,393,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL02077:Hnf4a
|
APN |
2 |
163,404,527 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02419:Hnf4a
|
APN |
2 |
163,408,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Hnf4a
|
APN |
2 |
163,408,037 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Hnf4a
|
UTSW |
2 |
163,401,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Hnf4a
|
UTSW |
2 |
163,404,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Hnf4a
|
UTSW |
2 |
163,408,259 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2131:Hnf4a
|
UTSW |
2 |
163,389,338 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2509:Hnf4a
|
UTSW |
2 |
163,408,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Hnf4a
|
UTSW |
2 |
163,406,139 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5478:Hnf4a
|
UTSW |
2 |
163,410,926 (GRCm39) |
missense |
probably benign |
|
|
R6382:Hnf4a
|
UTSW |
2 |
163,410,926 (GRCm39) |
missense |
probably benign |
|
|
R7016:Hnf4a
|
UTSW |
2 |
163,406,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7443:Hnf4a
|
UTSW |
2 |
163,400,932 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7875:Hnf4a
|
UTSW |
2 |
163,400,980 (GRCm39) |
nonsense |
probably null |
|
|
R9189:Hnf4a
|
UTSW |
2 |
163,393,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCCCACAGACTTGCCTG -3'
(R):5'- TAGGTGCGATCTTCTCCTGC -3'
Sequencing Primer
(F):5'- GGTTACTTTTGCATTACTAGCCCAGG -3'
(R):5'- CCCTCCTTACCCATGGTAGG -3'
|
| Posted On |
2016-01-29 |
Incidental Mutation