Incidental Mutation 'IGL02194:Fhl5'
| ID |
284005 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fhl5
|
| Ensembl Gene |
ENSMUSG00000028259 |
| Gene Name |
four and a half LIM domains 5 |
| Synonyms |
1700027G07Rik, ACT |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
25199907-25242852 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25211341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 117
(E117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029922]
[ENSMUST00000108204]
|
| AlphaFold |
Q9WTX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029922
AA Change: E117G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000029922
Gene: ENSMUSG00000028259
AA Change: E117G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
40 |
93 |
1.91e-11 |
SMART |
|
LIM
|
101 |
154 |
4.59e-14 |
SMART |
|
LIM
|
162 |
213 |
3.7e-9 |
SMART |
|
LIM
|
221 |
276 |
7.68e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108204
AA Change: E117G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000103839
Gene: ENSMUSG00000028259
AA Change: E117G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
40 |
93 |
1.91e-11 |
SMART |
|
LIM
|
101 |
154 |
4.59e-14 |
SMART |
|
LIM
|
162 |
213 |
3.7e-9 |
SMART |
|
LIM
|
221 |
276 |
7.68e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124792
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
PHENOTYPE: Male mice homozygous for disruptions of this gene have reduced sperm counts and abnormal sperm but are none the less fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Krt15 |
A |
G |
11: 100,022,839 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Fhl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Fhl5
|
APN |
4 |
25,207,181 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03172:Fhl5
|
APN |
4 |
25,211,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Fhl5
|
UTSW |
4 |
25,211,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4472001:Fhl5
|
UTSW |
4 |
25,211,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0020:Fhl5
|
UTSW |
4 |
25,200,054 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0020:Fhl5
|
UTSW |
4 |
25,200,054 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0256:Fhl5
|
UTSW |
4 |
25,213,624 (GRCm39) |
missense |
probably benign |
|
|
R0304:Fhl5
|
UTSW |
4 |
25,207,241 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0480:Fhl5
|
UTSW |
4 |
25,207,101 (GRCm39) |
nonsense |
probably null |
|
|
R0563:Fhl5
|
UTSW |
4 |
25,213,610 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3418:Fhl5
|
UTSW |
4 |
25,211,252 (GRCm39) |
missense |
probably benign |
|
|
R3926:Fhl5
|
UTSW |
4 |
25,214,790 (GRCm39) |
splice site |
probably benign |
|
|
R4382:Fhl5
|
UTSW |
4 |
25,200,118 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5930:Fhl5
|
UTSW |
4 |
25,214,756 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6135:Fhl5
|
UTSW |
4 |
25,214,716 (GRCm39) |
nonsense |
probably null |
|
|
R6927:Fhl5
|
UTSW |
4 |
25,213,681 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7147:Fhl5
|
UTSW |
4 |
25,213,777 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7975:Fhl5
|
UTSW |
4 |
25,214,730 (GRCm39) |
missense |
probably benign |
|
|
R8213:Fhl5
|
UTSW |
4 |
25,207,113 (GRCm39) |
nonsense |
probably null |
|
|
R9609:Fhl5
|
UTSW |
4 |
25,214,653 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation