Incidental Mutation 'R5016:Luc7l2'
| ID |
385572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Luc7l2
|
| Ensembl Gene |
ENSMUSG00000029823 |
| Gene Name |
LUC7-like 2 (S. cerevisiae) |
| Synonyms |
CGI-59, 4930471C18Rik, CGI-74 |
| MMRRC Submission |
042607-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.305)
|
| Stock # |
R5016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
38528269-38586405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38562036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 20
(I20V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057692]
[ENSMUST00000159936]
[ENSMUST00000160511]
[ENSMUST00000161227]
[ENSMUST00000161538]
[ENSMUST00000163047]
[ENSMUST00000162386]
|
| AlphaFold |
Q7TNC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057692
AA Change: I73V
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055254
Gene: ENSMUSG00000029823
AA Change: I73V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
5 |
257 |
6.5e-84 |
PFAM |
|
low complexity region
|
269 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160430
|
| SMART Domains |
Protein: ENSMUSP00000124686
Gene: ENSMUSG00000029823
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
211 |
9.9e-70 |
PFAM |
|
low complexity region
|
217 |
281 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160582
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161227
AA Change: I20V
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125111
Gene: ENSMUSG00000029823
AA Change: I20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
288 |
6.9e-65 |
PFAM |
|
low complexity region
|
294 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161538
AA Change: I73V
PolyPhen 2
Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124010
Gene: ENSMUSG00000029823
AA Change: I73V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
4 |
309 |
3.3e-93 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163047
AA Change: I20V
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125394
Gene: ENSMUSG00000029823
AA Change: I20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LUC7
|
1 |
257 |
3.2e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162386
|
| Meta Mutation Damage Score |
0.1119 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
| Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
| Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
| Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
| Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
| Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
| Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
| Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
| Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,800,189 (GRCm39) |
K185R |
possibly damaging |
Het |
| Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
| Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
| Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
| Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
| Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
| Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
| Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
| Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
| Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
| Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
| Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
| Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
| Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
| St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
| Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
| Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
| Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
| Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
probably benign |
Het |
|
| Other mutations in Luc7l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Luc7l2
|
APN |
6 |
38,585,105 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00684:Luc7l2
|
APN |
6 |
38,585,111 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00785:Luc7l2
|
APN |
6 |
38,575,721 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0004:Luc7l2
|
UTSW |
6 |
38,566,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0304:Luc7l2
|
UTSW |
6 |
38,569,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1820:Luc7l2
|
UTSW |
6 |
38,575,754 (GRCm39) |
splice site |
probably null |
|
|
R2223:Luc7l2
|
UTSW |
6 |
38,542,659 (GRCm39) |
intron |
probably benign |
|
|
R3815:Luc7l2
|
UTSW |
6 |
38,547,526 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7583:Luc7l2
|
UTSW |
6 |
38,528,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7655:Luc7l2
|
UTSW |
6 |
38,580,399 (GRCm39) |
missense |
unknown |
|
|
R7656:Luc7l2
|
UTSW |
6 |
38,580,399 (GRCm39) |
missense |
unknown |
|
|
R7722:Luc7l2
|
UTSW |
6 |
38,580,243 (GRCm39) |
missense |
unknown |
|
|
R7761:Luc7l2
|
UTSW |
6 |
38,531,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8105:Luc7l2
|
UTSW |
6 |
38,569,588 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9222:Luc7l2
|
UTSW |
6 |
38,542,633 (GRCm39) |
missense |
probably benign |
|
|
R9420:Luc7l2
|
UTSW |
6 |
38,547,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Luc7l2
|
UTSW |
6 |
38,580,315 (GRCm39) |
missense |
unknown |
|
|
Z1088:Luc7l2
|
UTSW |
6 |
38,580,304 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1176:Luc7l2
|
UTSW |
6 |
38,528,843 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTACTCACTGCATGACTTAGTAT -3'
(R):5'- CTGGAGATAAGTGCTTGTTACTATCAG -3'
Sequencing Primer
(F):5'- CTGAAGAGAACTGTGATAGTG -3'
(R):5'- ACTTTTATACAGCCGGGCAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation