Incidental Mutation 'RF017:Larp4b'
| ID |
603636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Larp4b
|
| Ensembl Gene |
ENSMUSG00000033499 |
| Gene Name |
La ribonucleoprotein 4B |
| Synonyms |
Larp5, D13Wsu64e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.762)
|
| Stock # |
RF017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
9143917-9224487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 9173946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 30
(G30V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091829]
[ENSMUST00000188211]
[ENSMUST00000188939]
[ENSMUST00000190041]
|
| AlphaFold |
Q6A0A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091829
AA Change: G30V
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089437
Gene: ENSMUSG00000033499
AA Change: G30V
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
156 |
234 |
3.25e-36 |
SMART |
|
RRM
|
239 |
309 |
6.25e-2 |
SMART |
|
low complexity region
|
510 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
597 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188211
AA Change: G30V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140993
Gene: ENSMUSG00000033499
AA Change: G30V
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
156 |
234 |
3.25e-36 |
SMART |
|
RRM
|
239 |
309 |
6.25e-2 |
SMART |
|
low complexity region
|
510 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
597 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188939
AA Change: G30V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139578
Gene: ENSMUSG00000033499
AA Change: G30V
| Domain | Start | End | E-Value | Type |
|---|
|
LA
|
156 |
234 |
3.25e-36 |
SMART |
|
RRM
|
239 |
309 |
6.25e-2 |
SMART |
|
low complexity region
|
510 |
529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190041
AA Change: G30V
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
ACCACC |
ACCACCACC |
4: 132,790,062 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| AY358078 |
T |
TAGGATAATGA |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
CCA |
CCAGCA |
10: 4,511,024 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,953 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
C |
A |
2: 35,065,201 (GRCm39) |
D2168E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,570,849 (GRCm39) |
R195S |
probably benign |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Elp6 |
A |
T |
9: 110,148,777 (GRCm39) |
H222L |
probably damaging |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Fgf22 |
A |
G |
10: 79,592,680 (GRCm39) |
H125R |
probably benign |
Het |
| Galnt18 |
G |
A |
7: 111,198,221 (GRCm39) |
R180C |
probably damaging |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,106 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
C |
A |
2: 26,214,884 (GRCm39) |
H288Q |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,648,001 (GRCm39) |
I628V |
probably benign |
Het |
| Irag2 |
GCACATTG |
GCACATTGATCACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
C |
T |
1: 180,160,887 (GRCm39) |
R338W |
probably damaging |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGCCACAG |
CCACCACAGCCACAGTCACCACAGCCACAG |
1: 83,019,987 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
CAGCAGGGGCGGCA |
C |
11: 99,525,543 (GRCm39) |
|
probably null |
Het |
| Krtap4-9 |
TGCTGTGTGTCCAGCTGCTGCAG |
TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,225 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA |
2: 121,136,789 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
C |
13: 100,136,796 (GRCm39) |
V53G |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,836,354 (GRCm39) |
N291S |
unknown |
Het |
| Mug1 |
T |
A |
6: 121,861,533 (GRCm39) |
Y1332N |
probably damaging |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,971 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,681,313 (GRCm39) |
T531A |
probably damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,709,766 (GRCm39) |
V349G |
probably damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,672 (GRCm39) |
I184N |
probably damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,467 (GRCm39) |
I331N |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,138,577 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,741,446 (GRCm39) |
D2353G |
probably benign |
Het |
| Rasa2 |
GCC |
GCCCCC |
9: 96,513,521 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,960,195 (GRCm39) |
D225V |
probably damaging |
Het |
| Rph3a |
A |
T |
5: 121,100,562 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,034,610 (GRCm39) |
V1261E |
possibly damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,323,812 (GRCm39) |
I368F |
probably damaging |
Het |
| Spaca1 |
CTCGC |
CTCGCTGTCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
AA |
AACTGTCA |
10: 82,126,826 (GRCm39) |
|
probably benign |
Het |
| Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
C |
1: 187,995,666 (GRCm39) |
T146P |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,509,849 (GRCm39) |
L440P |
probably damaging |
Het |
| Xpnpep1 |
T |
A |
19: 53,020,491 (GRCm39) |
I24L |
probably benign |
Het |
|
| Other mutations in Larp4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01746:Larp4b
|
APN |
13 |
9,208,160 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02519:Larp4b
|
APN |
13 |
9,208,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02609:Larp4b
|
APN |
13 |
9,220,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Larp4b
|
UTSW |
13 |
9,220,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Larp4b
|
UTSW |
13 |
9,208,143 (GRCm39) |
splice site |
probably null |
|
|
R0585:Larp4b
|
UTSW |
13 |
9,220,737 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0585:Larp4b
|
UTSW |
13 |
9,197,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0751:Larp4b
|
UTSW |
13 |
9,216,345 (GRCm39) |
splice site |
probably benign |
|
|
R1184:Larp4b
|
UTSW |
13 |
9,216,345 (GRCm39) |
splice site |
probably benign |
|
|
R1202:Larp4b
|
UTSW |
13 |
9,216,362 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1525:Larp4b
|
UTSW |
13 |
9,195,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1599:Larp4b
|
UTSW |
13 |
9,172,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1637:Larp4b
|
UTSW |
13 |
9,201,133 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1833:Larp4b
|
UTSW |
13 |
9,201,235 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1852:Larp4b
|
UTSW |
13 |
9,187,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1962:Larp4b
|
UTSW |
13 |
9,186,878 (GRCm39) |
missense |
probably benign |
|
|
R2359:Larp4b
|
UTSW |
13 |
9,208,199 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2973:Larp4b
|
UTSW |
13 |
9,216,347 (GRCm39) |
splice site |
probably benign |
|
|
R3803:Larp4b
|
UTSW |
13 |
9,208,590 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4810:Larp4b
|
UTSW |
13 |
9,208,627 (GRCm39) |
missense |
probably benign |
|
|
R4828:Larp4b
|
UTSW |
13 |
9,220,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Larp4b
|
UTSW |
13 |
9,220,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Larp4b
|
UTSW |
13 |
9,221,013 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5259:Larp4b
|
UTSW |
13 |
9,208,220 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5379:Larp4b
|
UTSW |
13 |
9,186,945 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5436:Larp4b
|
UTSW |
13 |
9,218,936 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5616:Larp4b
|
UTSW |
13 |
9,208,695 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5774:Larp4b
|
UTSW |
13 |
9,220,679 (GRCm39) |
splice site |
probably null |
|
|
R5818:Larp4b
|
UTSW |
13 |
9,208,596 (GRCm39) |
missense |
probably benign |
|
|
R6007:Larp4b
|
UTSW |
13 |
9,218,793 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6248:Larp4b
|
UTSW |
13 |
9,208,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6452:Larp4b
|
UTSW |
13 |
9,197,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6501:Larp4b
|
UTSW |
13 |
9,218,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7324:Larp4b
|
UTSW |
13 |
9,208,616 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7689:Larp4b
|
UTSW |
13 |
9,186,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Larp4b
|
UTSW |
13 |
9,220,679 (GRCm39) |
splice site |
probably null |
|
|
R7955:Larp4b
|
UTSW |
13 |
9,186,816 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8877:Larp4b
|
UTSW |
13 |
9,193,835 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8975:Larp4b
|
UTSW |
13 |
9,195,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9147:Larp4b
|
UTSW |
13 |
9,186,819 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9191:Larp4b
|
UTSW |
13 |
9,220,830 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9361:Larp4b
|
UTSW |
13 |
9,199,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGCCACTGTACTTCTGGATATC -3'
(R):5'- ACTACTATGTCTGACACACTGTG -3'
Sequencing Primer
(F):5'- CCCAGTGGGTTTGGTTTTACTTA -3'
(R):5'- TGAACATTTAGCACACTCAGGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation