Incidental Mutation 'R5922:Actl7a'
| ID |
461624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actl7a
|
| Ensembl Gene |
ENSMUSG00000070979 |
| Gene Name |
actin-like 7a |
| Synonyms |
Tact2, t-actin 2 |
| MMRRC Submission |
043240-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.594)
|
| Stock # |
R5922 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
56743422-56744925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56743827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 118
(R118L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095079]
[ENSMUST00000095080]
[ENSMUST00000181745]
|
| AlphaFold |
Q9QY84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095079
AA Change: R118L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092692
Gene: ENSMUSG00000070979
AA Change: R118L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACTL7A_N
|
6 |
70 |
1.3e-39 |
PFAM |
|
ACTIN
|
74 |
440 |
4.63e-123 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095080
|
| SMART Domains |
Protein: ENSMUSP00000092693
Gene: ENSMUSG00000070980
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
51 |
418 |
1.6e-117 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181745
|
| Meta Mutation Damage Score |
0.1408 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| 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 a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7A), and related gene, ACTL7B, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7A gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. The ACTL7A gene is expressed in a wide variety of adult tissues, however, its exact function is not known. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atr |
A |
G |
9: 95,785,735 (GRCm39) |
D1429G |
probably benign |
Het |
| Brinp2 |
A |
T |
1: 158,076,925 (GRCm39) |
V390D |
possibly damaging |
Het |
| Cpn1 |
T |
C |
19: 43,974,532 (GRCm39) |
S66G |
probably damaging |
Het |
| Dnal1 |
C |
A |
12: 84,173,746 (GRCm39) |
L55M |
probably damaging |
Het |
| Dus2 |
G |
A |
8: 106,780,037 (GRCm39) |
R453Q |
possibly damaging |
Het |
| Efcab5 |
T |
C |
11: 77,079,570 (GRCm39) |
T59A |
probably benign |
Het |
| Elmo1 |
A |
G |
13: 20,789,339 (GRCm39) |
D685G |
probably damaging |
Het |
| Ern1 |
T |
C |
11: 106,312,556 (GRCm39) |
E275G |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,291,623 (GRCm39) |
|
probably null |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,755 (GRCm39) |
M151T |
probably benign |
Het |
| Heatr9 |
C |
T |
11: 83,403,193 (GRCm39) |
|
probably null |
Het |
| Herpud2 |
G |
A |
9: 25,020,280 (GRCm39) |
L359F |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,831 (GRCm39) |
R118H |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,448,106 (GRCm39) |
Y253C |
probably damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,206 (GRCm39) |
C22R |
probably damaging |
Het |
| Ms4a6b |
T |
A |
19: 11,497,743 (GRCm39) |
I14N |
possibly damaging |
Het |
| Myb |
T |
A |
10: 21,028,826 (GRCm39) |
I91F |
probably damaging |
Het |
| Myh6 |
C |
T |
14: 55,183,931 (GRCm39) |
D1668N |
probably damaging |
Het |
| Noc2l |
C |
T |
4: 156,325,770 (GRCm39) |
Q182* |
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,395,288 (GRCm39) |
N1066S |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,803,224 (GRCm39) |
Y659H |
probably damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,659 (GRCm39) |
E752G |
possibly damaging |
Het |
| Paqr6 |
G |
T |
3: 88,273,544 (GRCm39) |
A154S |
probably benign |
Het |
| Pdlim7 |
G |
T |
13: 55,656,768 (GRCm39) |
T62K |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,374,524 (GRCm39) |
D321G |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,964,155 (GRCm39) |
N29K |
possibly damaging |
Het |
| Scimp |
A |
C |
11: 70,691,642 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,305,651 (GRCm39) |
N2251S |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,879,134 (GRCm39) |
D291E |
possibly damaging |
Het |
| Serpina3i |
A |
G |
12: 104,232,766 (GRCm39) |
K224E |
probably benign |
Het |
| Spz1 |
A |
T |
13: 92,712,106 (GRCm39) |
D123E |
possibly damaging |
Het |
| St14 |
A |
T |
9: 31,041,200 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
T |
7: 45,853,552 (GRCm39) |
|
probably null |
Het |
| Usp54 |
T |
C |
14: 20,602,139 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
C |
T |
8: 109,673,330 (GRCm39) |
T1460M |
probably damaging |
Het |
| Zfp712 |
G |
T |
13: 67,189,668 (GRCm39) |
N286K |
probably benign |
Het |
|
| Other mutations in Actl7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00792:Actl7a
|
APN |
4 |
56,743,944 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01767:Actl7a
|
APN |
4 |
56,743,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02626:Actl7a
|
APN |
4 |
56,744,353 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0046:Actl7a
|
UTSW |
4 |
56,743,877 (GRCm39) |
nonsense |
probably null |
|
|
R0046:Actl7a
|
UTSW |
4 |
56,743,877 (GRCm39) |
nonsense |
probably null |
|
|
R1741:Actl7a
|
UTSW |
4 |
56,744,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1920:Actl7a
|
UTSW |
4 |
56,744,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2984:Actl7a
|
UTSW |
4 |
56,744,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3716:Actl7a
|
UTSW |
4 |
56,744,295 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4779:Actl7a
|
UTSW |
4 |
56,743,632 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5391:Actl7a
|
UTSW |
4 |
56,743,661 (GRCm39) |
missense |
probably benign |
|
|
R5540:Actl7a
|
UTSW |
4 |
56,744,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5723:Actl7a
|
UTSW |
4 |
56,744,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5902:Actl7a
|
UTSW |
4 |
56,743,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Actl7a
|
UTSW |
4 |
56,743,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Actl7a
|
UTSW |
4 |
56,743,870 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6786:Actl7a
|
UTSW |
4 |
56,744,116 (GRCm39) |
nonsense |
probably null |
|
|
R7168:Actl7a
|
UTSW |
4 |
56,743,769 (GRCm39) |
missense |
probably benign |
|
|
R7568:Actl7a
|
UTSW |
4 |
56,744,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8230:Actl7a
|
UTSW |
4 |
56,743,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Actl7a
|
UTSW |
4 |
56,743,744 (GRCm39) |
missense |
probably benign |
0.41 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAGACAGAAGACCCTG -3'
(R):5'- CTCTCTGTTGGTATGAGGACTCAG -3'
Sequencing Primer
(F):5'- CCCTGTTAAGTCAACTATGTCCAAGG -3'
(R):5'- CTCAGGGGTGGGTCTGAAAC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation