Incidental Mutation 'R8208:Hirip3'
| ID |
636013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hirip3
|
| Ensembl Gene |
ENSMUSG00000042606 |
| Gene Name |
HIRA interacting protein 3 |
| Synonyms |
|
| MMRRC Submission |
067631-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8208 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126461155-126464549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 126463595 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 494
(C494F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037248]
[ENSMUST00000050833]
[ENSMUST00000071268]
[ENSMUST00000106342]
[ENSMUST00000106343]
[ENSMUST00000129812]
[ENSMUST00000132808]
[ENSMUST00000205349]
[ENSMUST00000206349]
[ENSMUST00000206968]
|
| AlphaFold |
Q8BLH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037248
AA Change: C494F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035535
Gene: ENSMUSG00000042606
AA Change: C494F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
419 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
420 |
443 |
6.44e-5 |
PROSPERO |
|
internal_repeat_1
|
440 |
463 |
6.44e-5 |
PROSPERO |
|
CHZ
|
529 |
565 |
1.17e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050833
|
| SMART Domains |
Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071268
|
| SMART Domains |
Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
28 |
281 |
6.42e-86 |
SMART |
|
low complexity region
|
319 |
333 |
N/A |
INTRINSIC |
|
coiled coil region
|
373 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
465 |
N/A |
INTRINSIC |
|
coiled coil region
|
493 |
526 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
570 |
N/A |
INTRINSIC |
|
coiled coil region
|
579 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
639 |
N/A |
INTRINSIC |
|
coiled coil region
|
821 |
859 |
N/A |
INTRINSIC |
|
low complexity region
|
863 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
954 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
977 |
992 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106342
|
| SMART Domains |
Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
157 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106343
|
| SMART Domains |
Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
10 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129812
|
| SMART Domains |
Protein: ENSMUSP00000114606
Gene: ENSMUSG00000030689
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1iw7c_
|
15 |
37 |
4e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132808
|
| SMART Domains |
Protein: ENSMUSP00000115145
Gene: ENSMUSG00000042606
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
104 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205958
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206968
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (47/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
| Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
| Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
| Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
| Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Folh1 |
A |
T |
7: 86,375,125 (GRCm39) |
H620Q |
probably damaging |
Het |
| Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
| Hcn2 |
T |
A |
10: 79,566,778 (GRCm39) |
M485K |
possibly damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
| Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
| Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
| Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
| Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
| Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
| Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
| Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
| Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
| Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
| Pcf11 |
G |
T |
7: 92,298,731 (GRCm39) |
N1268K |
probably damaging |
Het |
| Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
| Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
| Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
| Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
| Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
| Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
| Snd1 |
C |
T |
6: 28,526,054 (GRCm39) |
P144L |
possibly damaging |
Het |
| Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
| Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
| Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hirip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01523:Hirip3
|
APN |
7 |
126,461,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01531:Hirip3
|
APN |
7 |
126,462,548 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01885:Hirip3
|
APN |
7 |
126,463,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Hirip3
|
UTSW |
7 |
126,462,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0270:Hirip3
|
UTSW |
7 |
126,462,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1185:Hirip3
|
UTSW |
7 |
126,462,832 (GRCm39) |
frame shift |
probably null |
|
|
R1185:Hirip3
|
UTSW |
7 |
126,462,832 (GRCm39) |
frame shift |
probably null |
|
|
R1185:Hirip3
|
UTSW |
7 |
126,462,832 (GRCm39) |
frame shift |
probably null |
|
|
R1676:Hirip3
|
UTSW |
7 |
126,462,647 (GRCm39) |
splice site |
probably null |
|
|
R1792:Hirip3
|
UTSW |
7 |
126,461,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1951:Hirip3
|
UTSW |
7 |
126,462,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2327:Hirip3
|
UTSW |
7 |
126,462,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4674:Hirip3
|
UTSW |
7 |
126,463,834 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5024:Hirip3
|
UTSW |
7 |
126,463,661 (GRCm39) |
splice site |
probably null |
|
|
R5523:Hirip3
|
UTSW |
7 |
126,463,034 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6876:Hirip3
|
UTSW |
7 |
126,463,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7181:Hirip3
|
UTSW |
7 |
126,463,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:Hirip3
|
UTSW |
7 |
126,462,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9211:Hirip3
|
UTSW |
7 |
126,463,567 (GRCm39) |
nonsense |
probably null |
|
|
R9682:Hirip3
|
UTSW |
7 |
126,462,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGAGTCCAGAACCCACAG -3'
(R):5'- TTCAGAGCGCGACACTTCTC -3'
Sequencing Primer
(F):5'- TCTTCATCAGATTCAGGTCCAGAAC -3'
(R):5'- CACTTCTCCAAGGAAGGGTTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation