Incidental Mutation 'IGL00264:Hexim2'
ID |
6014 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hexim2
|
Ensembl Gene |
ENSMUSG00000043372 |
Gene Name |
hexamethylene bis-acetamide inducible 2 |
Synonyms |
4933402L21Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.251)
|
Stock # |
IGL00264
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
103023255-103030702 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103029281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 111
(E111G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122591
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062530]
[ENSMUST00000107037]
[ENSMUST00000124928]
[ENSMUST00000130341]
[ENSMUST00000150275]
|
AlphaFold |
Q3TVI4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062530
AA Change: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053678 Gene: ENSMUSG00000043372 AA Change: E111G
Domain | Start | End | E-Value | Type |
Pfam:HEXIM
|
101 |
227 |
2.2e-42 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107037
AA Change: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102652 Gene: ENSMUSG00000043372 AA Change: E111G
Domain | Start | End | E-Value | Type |
Pfam:HEXIM
|
101 |
226 |
1.1e-49 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124928
AA Change: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116991 Gene: ENSMUSG00000043372 AA Change: E111G
Domain | Start | End | E-Value | Type |
Pfam:HEXIM
|
101 |
174 |
2.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130341
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150275
AA Change: E111G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122591 Gene: ENSMUSG00000043372 AA Change: E111G
Domain | Start | End | E-Value | Type |
low complexity region
|
87 |
103 |
N/A |
INTRINSIC |
|
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 member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
Tbrg1 |
G |
T |
9: 37,562,337 (GRCm39) |
N280K |
probably benign |
Het |
Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
Other mutations in Hexim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00519:Hexim2
|
APN |
11 |
103,024,905 (GRCm39) |
start codon destroyed |
probably benign |
0.14 |
IGL01142:Hexim2
|
APN |
11 |
103,024,960 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01369:Hexim2
|
APN |
11 |
103,029,464 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02738:Hexim2
|
APN |
11 |
103,029,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R1106:Hexim2
|
UTSW |
11 |
103,029,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Hexim2
|
UTSW |
11 |
103,029,147 (GRCm39) |
nonsense |
probably null |
|
R4847:Hexim2
|
UTSW |
11 |
103,029,767 (GRCm39) |
missense |
probably benign |
0.04 |
R5436:Hexim2
|
UTSW |
11 |
103,029,095 (GRCm39) |
missense |
probably null |
0.98 |
R5485:Hexim2
|
UTSW |
11 |
103,029,884 (GRCm39) |
missense |
probably benign |
0.06 |
R5814:Hexim2
|
UTSW |
11 |
103,029,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R6020:Hexim2
|
UTSW |
11 |
103,029,118 (GRCm39) |
missense |
probably benign |
0.01 |
R7766:Hexim2
|
UTSW |
11 |
103,029,838 (GRCm39) |
missense |
probably benign |
0.13 |
R8399:Hexim2
|
UTSW |
11 |
103,029,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R9171:Hexim2
|
UTSW |
11 |
103,029,822 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-04-20 |