Incidental Mutation 'R1426:Lrrc34'
| ID |
250614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc34
|
| Ensembl Gene |
ENSMUSG00000027702 |
| Gene Name |
leucine rich repeat containing 34 |
| Synonyms |
Spata34, 1700007J06Rik |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30678416-30701967 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 30697728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029252]
[ENSMUST00000108265]
[ENSMUST00000108267]
[ENSMUST00000172350]
|
| AlphaFold |
Q9DAM1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029252
|
| SMART Domains |
Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
73 |
100 |
2.23e2 |
SMART |
|
LRR
|
101 |
128 |
6.92e-1 |
SMART |
|
LRR
|
129 |
156 |
1.78e0 |
SMART |
|
LRR
|
157 |
184 |
1.67e-2 |
SMART |
|
Blast:LRR
|
216 |
242 |
2e-9 |
BLAST |
|
LRR
|
244 |
271 |
2.57e-3 |
SMART |
|
LRR
|
272 |
299 |
5.59e-4 |
SMART |
|
LRR
|
301 |
328 |
4.16e0 |
SMART |
|
LRR
|
329 |
356 |
1.66e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108265
|
| SMART Domains |
Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
68 |
90 |
7.05e-1 |
SMART |
|
LRR
|
91 |
114 |
1.19e1 |
SMART |
|
Pfam:LRR_7
|
115 |
133 |
1.1e-1 |
PFAM |
|
LRR
|
138 |
161 |
9.75e0 |
SMART |
|
LRR
|
162 |
185 |
8.72e0 |
SMART |
|
LRR
|
208 |
230 |
3.47e0 |
SMART |
|
LRR
|
231 |
254 |
9.3e-1 |
SMART |
|
LRR
|
255 |
276 |
1.22e2 |
SMART |
|
LRR
|
277 |
300 |
4.83e0 |
SMART |
|
LRR
|
323 |
345 |
6.22e0 |
SMART |
|
LRR
|
346 |
368 |
6.4e0 |
SMART |
|
LRR
|
369 |
392 |
1.51e0 |
SMART |
|
LRR
|
418 |
440 |
2.03e1 |
SMART |
|
LRR
|
441 |
464 |
2.82e0 |
SMART |
|
IQ
|
524 |
546 |
8.84e-3 |
SMART |
|
low complexity region
|
553 |
581 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108267
|
| SMART Domains |
Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
83 |
105 |
7.05e-1 |
SMART |
|
LRR
|
106 |
129 |
1.19e1 |
SMART |
|
Pfam:LRR_7
|
130 |
148 |
1.2e-1 |
PFAM |
|
LRR
|
153 |
176 |
9.75e0 |
SMART |
|
LRR
|
177 |
200 |
8.72e0 |
SMART |
|
LRR
|
223 |
245 |
3.47e0 |
SMART |
|
LRR
|
246 |
269 |
9.3e-1 |
SMART |
|
LRR
|
270 |
291 |
1.22e2 |
SMART |
|
LRR
|
292 |
315 |
4.83e0 |
SMART |
|
LRR
|
338 |
360 |
6.22e0 |
SMART |
|
LRR
|
361 |
383 |
6.4e0 |
SMART |
|
LRR
|
384 |
407 |
1.51e0 |
SMART |
|
LRR
|
433 |
455 |
2.03e1 |
SMART |
|
LRR
|
456 |
479 |
2.82e0 |
SMART |
|
IQ
|
539 |
561 |
8.84e-3 |
SMART |
|
low complexity region
|
568 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172350
|
| SMART Domains |
Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
83 |
105 |
7.05e-1 |
SMART |
|
LRR
|
106 |
129 |
1.19e1 |
SMART |
|
LRR
|
153 |
176 |
9.75e0 |
SMART |
|
LRR
|
177 |
200 |
8.72e0 |
SMART |
|
LRR
|
223 |
245 |
3.47e0 |
SMART |
|
LRR
|
246 |
269 |
9.3e-1 |
SMART |
|
LRR
|
270 |
291 |
1.22e2 |
SMART |
|
LRR
|
292 |
315 |
4.83e0 |
SMART |
|
LRR
|
338 |
360 |
6.22e0 |
SMART |
|
LRR
|
361 |
383 |
6.4e0 |
SMART |
|
LRR
|
384 |
407 |
1.51e0 |
SMART |
|
LRR
|
433 |
455 |
2.03e1 |
SMART |
|
LRR
|
456 |
479 |
2.82e0 |
SMART |
|
IQ
|
539 |
561 |
8.84e-3 |
SMART |
|
low complexity region
|
568 |
596 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,993,968 (GRCm39) |
H472R |
possibly damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably damaging |
Het |
|
| Other mutations in Lrrc34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02502:Lrrc34
|
APN |
3 |
30,699,394 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02738:Lrrc34
|
APN |
3 |
30,685,441 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02985:Lrrc34
|
APN |
3 |
30,690,444 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02999:Lrrc34
|
APN |
3 |
30,688,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0367:Lrrc34
|
UTSW |
3 |
30,684,142 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0761:Lrrc34
|
UTSW |
3 |
30,685,425 (GRCm39) |
splice site |
probably null |
|
|
R1980:Lrrc34
|
UTSW |
3 |
30,696,890 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2215:Lrrc34
|
UTSW |
3 |
30,697,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2414:Lrrc34
|
UTSW |
3 |
30,688,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4379:Lrrc34
|
UTSW |
3 |
30,685,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Lrrc34
|
UTSW |
3 |
30,690,397 (GRCm39) |
nonsense |
probably null |
|
|
R5418:Lrrc34
|
UTSW |
3 |
30,696,923 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5662:Lrrc34
|
UTSW |
3 |
30,685,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6736:Lrrc34
|
UTSW |
3 |
30,679,008 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6809:Lrrc34
|
UTSW |
3 |
30,688,749 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6941:Lrrc34
|
UTSW |
3 |
30,678,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7017:Lrrc34
|
UTSW |
3 |
30,699,465 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7080:Lrrc34
|
UTSW |
3 |
30,688,705 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7139:Lrrc34
|
UTSW |
3 |
30,679,036 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7191:Lrrc34
|
UTSW |
3 |
30,679,027 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7398:Lrrc34
|
UTSW |
3 |
30,697,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Lrrc34
|
UTSW |
3 |
30,697,452 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7707:Lrrc34
|
UTSW |
3 |
30,679,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7945:Lrrc34
|
UTSW |
3 |
30,696,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8799:Lrrc34
|
UTSW |
3 |
30,678,979 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9764:Lrrc34
|
UTSW |
3 |
30,697,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAAAGCAGGCCGTGTTTACCAG -3'
(R):5'- tgtacgccaacaGAGAGCCTAACC -3'
Sequencing Primer
(F):5'- CCGTGTTTACCAGCAAGC -3'
(R):5'- CCTGGATTGCAAAGACTCTGGTA -3'
|
| Posted On |
2014-11-26 |
Incidental Mutation