Incidental Mutation 'IGL00973:Hinfp'
| ID |
28255 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hinfp
|
| Ensembl Gene |
ENSMUSG00000032119 |
| Gene Name |
histone H4 transcription factor |
| Synonyms |
Mizf, DKFZp434F162 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
44203737-44216968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44209436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 283
(D283A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034629]
[ENSMUST00000214660]
[ENSMUST00000216508]
|
| AlphaFold |
Q8K1K9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034629
AA Change: D283A
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034629
Gene: ENSMUSG00000032119
AA Change: D283A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
15 |
39 |
8.09e-1 |
SMART |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
60 |
85 |
2.82e1 |
SMART |
|
ZnF_C2H2
|
125 |
149 |
1.16e1 |
SMART |
|
ZnF_C2H2
|
165 |
189 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
195 |
215 |
9.81e1 |
SMART |
|
ZnF_C2H2
|
225 |
247 |
3.69e-4 |
SMART |
|
ZnF_C2H2
|
251 |
274 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
280 |
302 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
308 |
333 |
5.06e-2 |
SMART |
|
ZnF_C2H2
|
341 |
364 |
2.75e-3 |
SMART |
|
low complexity region
|
399 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214660
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215637
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216508
AA Change: D283A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217137
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217605
|
| 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 transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality associated with delayed hatching and failure of the blastocyst to expand. [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 |
|---|
| Atp10a |
G |
T |
7: 58,457,218 (GRCm39) |
D906Y |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,173,882 (GRCm39) |
K32R |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,941,090 (GRCm39) |
A636V |
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,245 (GRCm39) |
|
probably benign |
Het |
| Dspp |
A |
C |
5: 104,324,758 (GRCm39) |
K374Q |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,129,791 (GRCm39) |
R962C |
probably damaging |
Het |
| Frrs1l |
T |
C |
4: 56,972,369 (GRCm39) |
K111E |
probably damaging |
Het |
| Galnt5 |
A |
G |
2: 57,888,951 (GRCm39) |
T184A |
probably benign |
Het |
| Glud1 |
C |
T |
14: 34,041,899 (GRCm39) |
T169I |
probably damaging |
Het |
| Hmcn2 |
C |
T |
2: 31,273,833 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
T |
14: 120,106,819 (GRCm39) |
Y409F |
possibly damaging |
Het |
| Ighv15-2 |
A |
T |
12: 114,528,490 (GRCm39) |
V20D |
possibly damaging |
Het |
| Kif17 |
A |
G |
4: 138,002,368 (GRCm39) |
T91A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,911,885 (GRCm39) |
|
probably benign |
Het |
| Myo1e |
C |
T |
9: 70,246,069 (GRCm39) |
T420M |
probably damaging |
Het |
| Or8b12c |
C |
A |
9: 37,716,078 (GRCm39) |
S290R |
probably damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,888,593 (GRCm39) |
Y316* |
probably null |
Het |
| Plekha1 |
T |
A |
7: 130,512,743 (GRCm39) |
V313D |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,031,364 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
A |
T |
16: 97,607,367 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
A |
1: 119,669,101 (GRCm39) |
M250L |
probably benign |
Het |
| Rtn1 |
A |
T |
12: 72,455,285 (GRCm39) |
L14Q |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,620,404 (GRCm39) |
|
probably null |
Het |
| Sox7 |
A |
G |
14: 64,185,636 (GRCm39) |
H224R |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,027 (GRCm39) |
S862G |
probably benign |
Het |
| Sucla2 |
T |
C |
14: 73,828,347 (GRCm39) |
I318T |
possibly damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,408 (GRCm39) |
|
probably benign |
Het |
| Ube2o |
T |
A |
11: 116,432,031 (GRCm39) |
K940M |
probably damaging |
Het |
| Usp20 |
A |
C |
2: 30,894,962 (GRCm39) |
N149T |
probably damaging |
Het |
| Utp6 |
C |
T |
11: 79,846,531 (GRCm39) |
W150* |
probably null |
Het |
| Wdr27 |
A |
C |
17: 15,134,140 (GRCm39) |
H475Q |
probably benign |
Het |
|
| Other mutations in Hinfp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Hinfp
|
APN |
9 |
44,209,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hinfp
|
UTSW |
9 |
44,211,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Hinfp
|
UTSW |
9 |
44,211,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Hinfp
|
UTSW |
9 |
44,211,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Hinfp
|
UTSW |
9 |
44,207,624 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0254:Hinfp
|
UTSW |
9 |
44,209,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Hinfp
|
UTSW |
9 |
44,210,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Hinfp
|
UTSW |
9 |
44,210,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3613:Hinfp
|
UTSW |
9 |
44,209,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3742:Hinfp
|
UTSW |
9 |
44,213,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5199:Hinfp
|
UTSW |
9 |
44,207,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5773:Hinfp
|
UTSW |
9 |
44,210,533 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5788:Hinfp
|
UTSW |
9 |
44,209,105 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6210:Hinfp
|
UTSW |
9 |
44,210,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6968:Hinfp
|
UTSW |
9 |
44,209,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7294:Hinfp
|
UTSW |
9 |
44,210,567 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7402:Hinfp
|
UTSW |
9 |
44,209,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7693:Hinfp
|
UTSW |
9 |
44,209,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8086:Hinfp
|
UTSW |
9 |
44,210,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Hinfp
|
UTSW |
9 |
44,209,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8916:Hinfp
|
UTSW |
9 |
44,209,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9129:Hinfp
|
UTSW |
9 |
44,209,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Hinfp
|
UTSW |
9 |
44,209,083 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9272:Hinfp
|
UTSW |
9 |
44,213,872 (GRCm39) |
missense |
probably benign |
|
|
R9372:Hinfp
|
UTSW |
9 |
44,209,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9436:Hinfp
|
UTSW |
9 |
44,209,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation