Incidental Mutation 'R4484:Lrrcc1'
| ID |
331523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrcc1
|
| Ensembl Gene |
ENSMUSG00000027550 |
| Gene Name |
leucine rich repeat and coiled-coil domain containing 1 |
| Synonyms |
1200008A14Rik, 4932441F23Rik |
| MMRRC Submission |
041740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4484 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14616503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 44
(N44I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000167858]
[ENSMUST00000169079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091325
AA Change: N539I
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: N539I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
60 |
116 |
1.1e-9 |
PFAM |
|
Pfam:LRR_4
|
82 |
126 |
4.8e-8 |
PFAM |
|
Blast:LRR
|
130 |
151 |
1e-5 |
BLAST |
|
coiled coil region
|
412 |
626 |
N/A |
INTRINSIC |
|
coiled coil region
|
675 |
718 |
N/A |
INTRINSIC |
|
coiled coil region
|
757 |
1010 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108370
AA Change: N555I
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: N555I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_8
|
60 |
116 |
1.1e-9 |
PFAM |
|
Pfam:LRR_4
|
82 |
124 |
4.5e-8 |
PFAM |
|
Blast:LRR
|
130 |
151 |
1e-5 |
BLAST |
|
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
642 |
N/A |
INTRINSIC |
|
coiled coil region
|
691 |
734 |
N/A |
INTRINSIC |
|
coiled coil region
|
773 |
953 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163660
AA Change: N433I
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: N433I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:LRR
|
8 |
29 |
7e-6 |
BLAST |
|
SCOP:d1dcea3
|
9 |
71 |
9e-4 |
SMART |
|
low complexity region
|
167 |
179 |
N/A |
INTRINSIC |
|
coiled coil region
|
306 |
520 |
N/A |
INTRINSIC |
|
coiled coil region
|
569 |
612 |
N/A |
INTRINSIC |
|
coiled coil region
|
651 |
716 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165436
|
| SMART Domains |
Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
32 |
154 |
4e-10 |
PFAM |
|
Pfam:LRR_6
|
60 |
83 |
1.4e-4 |
PFAM |
|
Pfam:LRR_4
|
60 |
103 |
6.2e-11 |
PFAM |
|
Pfam:LRR_8
|
60 |
116 |
8.1e-11 |
PFAM |
|
Pfam:LRR_1
|
61 |
81 |
3.3e-4 |
PFAM |
|
Pfam:LRR_6
|
78 |
105 |
3.4e-3 |
PFAM |
|
Pfam:LRR_4
|
82 |
125 |
4.9e-9 |
PFAM |
|
Pfam:LRR_6
|
103 |
125 |
5.1e-4 |
PFAM |
|
Pfam:LRR_4
|
104 |
149 |
1.2e-8 |
PFAM |
|
Pfam:LRR_1
|
105 |
128 |
3.8e-3 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167858
AA Change: N134I
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550
AA Change: N134I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
270 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
472 |
N/A |
INTRINSIC |
|
SCOP:d1ek8a_
|
494 |
550 |
7e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169079
AA Change: N555I
PolyPhen 2
Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: N555I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
60 |
102 |
4.3e-9 |
PFAM |
|
internal_repeat_1
|
109 |
145 |
1.05e-6 |
PROSPERO |
|
low complexity region
|
289 |
301 |
N/A |
INTRINSIC |
|
coiled coil region
|
428 |
642 |
N/A |
INTRINSIC |
|
coiled coil region
|
691 |
734 |
N/A |
INTRINSIC |
|
coiled coil region
|
773 |
1026 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169799
AA Change: N44I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550
AA Change: N44I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
131 |
N/A |
INTRINSIC |
|
coiled coil region
|
200 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171620
|
| SMART Domains |
Protein: ENSMUSP00000128252
Gene: ENSMUSG00000027550
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
30 |
91 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,301,730 (GRCm39) |
C1101R |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,357,016 (GRCm39) |
I588T |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Cd164l2 |
T |
A |
4: 132,950,986 (GRCm39) |
V147E |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,723,262 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,836,482 (GRCm39) |
T894A |
probably damaging |
Het |
| Crtc3 |
T |
C |
7: 80,239,696 (GRCm39) |
D552G |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,733 (GRCm39) |
N593I |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,079,083 (GRCm39) |
E142G |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,617,620 (GRCm39) |
I10V |
probably benign |
Het |
| Gm44501 |
T |
A |
17: 40,887,507 (GRCm39) |
F8L |
unknown |
Het |
| Gpr179 |
T |
C |
11: 97,226,537 (GRCm39) |
S1873G |
probably benign |
Het |
| Gprin2 |
C |
A |
14: 33,916,754 (GRCm39) |
A339S |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,649,038 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,208 (GRCm39) |
R91* |
probably null |
Het |
| Igtp |
G |
A |
11: 58,097,824 (GRCm39) |
V332I |
possibly damaging |
Het |
| Itfg1 |
G |
A |
8: 86,452,878 (GRCm39) |
P497S |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,517 (GRCm39) |
N181S |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,614,145 (GRCm39) |
Y1305H |
probably benign |
Het |
| Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
| Mkks |
T |
C |
2: 136,722,494 (GRCm39) |
E221G |
probably benign |
Het |
| Mtmr10 |
T |
C |
7: 63,970,379 (GRCm39) |
V374A |
possibly damaging |
Het |
| Muc5b |
G |
T |
7: 141,422,187 (GRCm39) |
C4441F |
possibly damaging |
Het |
| Nim1k |
G |
A |
13: 120,173,710 (GRCm39) |
Q395* |
probably null |
Het |
| Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
| Ntng1 |
C |
A |
3: 110,051,124 (GRCm39) |
|
probably benign |
Het |
| Padi1 |
G |
T |
4: 140,544,581 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
T |
C |
1: 167,452,596 (GRCm39) |
S133P |
probably benign |
Het |
| Snx19 |
T |
C |
9: 30,339,192 (GRCm39) |
I110T |
probably benign |
Het |
| Strap |
T |
C |
6: 137,726,334 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,631,831 (GRCm39) |
D890G |
probably benign |
Het |
| Tgtp2 |
A |
T |
11: 48,950,179 (GRCm39) |
M131K |
probably damaging |
Het |
| Tppp2 |
T |
C |
14: 52,156,868 (GRCm39) |
F82L |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,863,126 (GRCm39) |
K397E |
possibly damaging |
Het |
| Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
| Usp36 |
T |
A |
11: 118,176,621 (GRCm39) |
R66W |
probably damaging |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
| Vmn1r6 |
A |
G |
6: 56,980,174 (GRCm39) |
I279V |
probably benign |
Het |
| Vmn2r61 |
G |
A |
7: 41,950,120 (GRCm39) |
D847N |
probably benign |
Het |
| Zfp622 |
G |
A |
15: 25,987,137 (GRCm39) |
|
probably null |
Het |
| Zfp963 |
T |
C |
8: 70,197,135 (GRCm39) |
I36V |
probably benign |
Het |
| Zfy2 |
A |
G |
Y: 2,107,351 (GRCm39) |
Y428H |
possibly damaging |
Het |
|
| Other mutations in Lrrcc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Lrrcc1
|
APN |
3 |
14,601,188 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01325:Lrrcc1
|
APN |
3 |
14,601,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01681:Lrrcc1
|
APN |
3 |
14,613,286 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01767:Lrrcc1
|
APN |
3 |
14,612,332 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01868:Lrrcc1
|
APN |
3 |
14,619,417 (GRCm39) |
nonsense |
probably null |
|
|
IGL03123:Lrrcc1
|
APN |
3 |
14,601,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT1430001:Lrrcc1
|
UTSW |
3 |
14,610,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0295:Lrrcc1
|
UTSW |
3 |
14,630,909 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0427:Lrrcc1
|
UTSW |
3 |
14,623,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Lrrcc1
|
UTSW |
3 |
14,624,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Lrrcc1
|
UTSW |
3 |
14,622,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Lrrcc1
|
UTSW |
3 |
14,605,179 (GRCm39) |
splice site |
probably benign |
|
|
R0635:Lrrcc1
|
UTSW |
3 |
14,624,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1355:Lrrcc1
|
UTSW |
3 |
14,613,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1370:Lrrcc1
|
UTSW |
3 |
14,613,174 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1727:Lrrcc1
|
UTSW |
3 |
14,602,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1822:Lrrcc1
|
UTSW |
3 |
14,624,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1946:Lrrcc1
|
UTSW |
3 |
14,615,453 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2254:Lrrcc1
|
UTSW |
3 |
14,612,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2362:Lrrcc1
|
UTSW |
3 |
14,628,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Lrrcc1
|
UTSW |
3 |
14,601,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4105:Lrrcc1
|
UTSW |
3 |
14,615,388 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4464:Lrrcc1
|
UTSW |
3 |
14,622,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4543:Lrrcc1
|
UTSW |
3 |
14,604,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4718:Lrrcc1
|
UTSW |
3 |
14,601,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Lrrcc1
|
UTSW |
3 |
14,627,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Lrrcc1
|
UTSW |
3 |
14,601,156 (GRCm39) |
nonsense |
probably null |
|
|
R4841:Lrrcc1
|
UTSW |
3 |
14,627,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4842:Lrrcc1
|
UTSW |
3 |
14,627,571 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5900:Lrrcc1
|
UTSW |
3 |
14,627,186 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6338:Lrrcc1
|
UTSW |
3 |
14,612,376 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7001:Lrrcc1
|
UTSW |
3 |
14,605,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7036:Lrrcc1
|
UTSW |
3 |
14,628,069 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7342:Lrrcc1
|
UTSW |
3 |
14,619,431 (GRCm39) |
missense |
probably benign |
|
|
R8038:Lrrcc1
|
UTSW |
3 |
14,630,890 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8497:Lrrcc1
|
UTSW |
3 |
14,605,044 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8509:Lrrcc1
|
UTSW |
3 |
14,601,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Lrrcc1
|
UTSW |
3 |
14,601,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Lrrcc1
|
UTSW |
3 |
14,602,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9120:Lrrcc1
|
UTSW |
3 |
14,615,489 (GRCm39) |
nonsense |
probably null |
|
|
R9251:Lrrcc1
|
UTSW |
3 |
14,623,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9512:Lrrcc1
|
UTSW |
3 |
14,613,301 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9572:Lrrcc1
|
UTSW |
3 |
14,601,148 (GRCm39) |
nonsense |
probably null |
|
|
R9788:Lrrcc1
|
UTSW |
3 |
14,602,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGCCCTTGGTCTTTAAACAG -3'
(R):5'- AGTGGTCAATCACTGGGTGAG -3'
Sequencing Primer
(F):5'- TGCCCTTGGTCTTTAAACAGAACAAC -3'
(R):5'- TCAATCACTGGGTGAGGAAGATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation