Incidental Mutation 'R5952:Hira'
| ID |
470973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hira
|
| Ensembl Gene |
ENSMUSG00000022702 |
| Gene Name |
histone cell cycle regulator |
| Synonyms |
Tuple1, Gm15797, D16Ertd95e |
| MMRRC Submission |
044142-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5952 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18695787-18789059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18753815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 553
(T553K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004222]
[ENSMUST00000153397]
[ENSMUST00000190050]
|
| AlphaFold |
Q61666 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004222
AA Change: T553K
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: T553K
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
44 |
1.56e-1 |
SMART |
|
WD40
|
59 |
98 |
9.67e-7 |
SMART |
|
WD40
|
120 |
159 |
3.58e-10 |
SMART |
|
WD40
|
163 |
202 |
7.22e-6 |
SMART |
|
WD40
|
212 |
254 |
9.17e1 |
SMART |
|
WD40
|
257 |
313 |
1.54e0 |
SMART |
|
WD40
|
319 |
356 |
2.86e0 |
SMART |
|
low complexity region
|
405 |
412 |
N/A |
INTRINSIC |
|
Pfam:HIRA_B
|
448 |
470 |
1.9e-10 |
PFAM |
|
low complexity region
|
493 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
641 |
N/A |
INTRINSIC |
|
Pfam:Hira
|
761 |
960 |
2.9e-61 |
PFAM |
|
low complexity region
|
979 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153397
|
| SMART Domains |
Protein: ENSMUSP00000117944
Gene: ENSMUSG00000022702
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
40 |
1e-18 |
BLAST |
|
SCOP:d1erja_
|
7 |
33 |
3e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190050
|
| SMART Domains |
Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0619 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
91% (62/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
| Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
| Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
| Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
| Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
| Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
| Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
| Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
| Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
| Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
| Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
| Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
| Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
| Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
| Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
probably damaging |
Het |
| Zhx3 |
A |
T |
2: 160,623,937 (GRCm39) |
Y77N |
probably damaging |
Het |
|
| Other mutations in Hira |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00560:Hira
|
APN |
16 |
18,765,090 (GRCm39) |
splice site |
probably benign |
|
|
IGL01285:Hira
|
APN |
16 |
18,730,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
F5770:Hira
|
UTSW |
16 |
18,713,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Hira
|
UTSW |
16 |
18,744,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0123:Hira
|
UTSW |
16 |
18,774,921 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0225:Hira
|
UTSW |
16 |
18,774,921 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0606:Hira
|
UTSW |
16 |
18,753,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1017:Hira
|
UTSW |
16 |
18,718,097 (GRCm39) |
splice site |
probably null |
|
|
R1456:Hira
|
UTSW |
16 |
18,744,413 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1479:Hira
|
UTSW |
16 |
18,715,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Hira
|
UTSW |
16 |
18,751,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1830:Hira
|
UTSW |
16 |
18,766,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2039:Hira
|
UTSW |
16 |
18,770,451 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4328:Hira
|
UTSW |
16 |
18,715,362 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4401:Hira
|
UTSW |
16 |
18,744,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4423:Hira
|
UTSW |
16 |
18,774,952 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4634:Hira
|
UTSW |
16 |
18,765,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4728:Hira
|
UTSW |
16 |
18,741,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5050:Hira
|
UTSW |
16 |
18,744,609 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5139:Hira
|
UTSW |
16 |
18,773,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5201:Hira
|
UTSW |
16 |
18,770,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5327:Hira
|
UTSW |
16 |
18,773,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Hira
|
UTSW |
16 |
18,788,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5573:Hira
|
UTSW |
16 |
18,735,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5626:Hira
|
UTSW |
16 |
18,746,262 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5768:Hira
|
UTSW |
16 |
18,753,768 (GRCm39) |
splice site |
probably benign |
|
|
R6128:Hira
|
UTSW |
16 |
18,751,727 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6280:Hira
|
UTSW |
16 |
18,729,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Hira
|
UTSW |
16 |
18,730,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7363:Hira
|
UTSW |
16 |
18,716,532 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7497:Hira
|
UTSW |
16 |
18,770,829 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8059:Hira
|
UTSW |
16 |
18,730,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8079:Hira
|
UTSW |
16 |
18,744,507 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8167:Hira
|
UTSW |
16 |
18,715,259 (GRCm39) |
missense |
probably benign |
|
|
R8199:Hira
|
UTSW |
16 |
18,766,194 (GRCm39) |
missense |
probably benign |
|
|
R8256:Hira
|
UTSW |
16 |
18,744,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8404:Hira
|
UTSW |
16 |
18,770,912 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8877:Hira
|
UTSW |
16 |
18,770,854 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8928:Hira
|
UTSW |
16 |
18,716,537 (GRCm39) |
missense |
probably benign |
|
|
R8984:Hira
|
UTSW |
16 |
18,746,261 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9391:Hira
|
UTSW |
16 |
18,767,892 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9418:Hira
|
UTSW |
16 |
18,770,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Hira
|
UTSW |
16 |
18,772,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Hira
|
UTSW |
16 |
18,772,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7581:Hira
|
UTSW |
16 |
18,713,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7582:Hira
|
UTSW |
16 |
18,713,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Hira
|
UTSW |
16 |
18,730,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATACATTTGCCCTTGAACTTCTCAG -3'
(R):5'- TCCTAAAGGAGGCAGGATGC -3'
Sequencing Primer
(F):5'- CTTGAACTTCTCAGACTTTCAGAATC -3'
(R):5'- ATGCATGGTGAAGTCCCG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation