Incidental Mutation 'R4543:Lrrcc1'
| ID |
333614 |
| 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 |
041778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14604851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 109
(I109K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000169079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091325
AA Change: I231K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: I231K
| 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 |
probably damaging
Transcript: ENSMUST00000108370
AA Change: I231K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: I231K
| 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 |
probably damaging
Transcript: ENSMUST00000163660
AA Change: I109K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: I109K
| 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 |
probably damaging
Transcript: ENSMUST00000169079
AA Change: I231K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: I231K
| 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 |
|
| Meta Mutation Damage Score |
0.1026 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
94% (44/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,789,749 (GRCm39) |
S500T |
probably damaging |
Het |
| Abhd3 |
T |
C |
18: 10,706,672 (GRCm39) |
D2G |
possibly damaging |
Het |
| Ablim1 |
C |
T |
19: 57,065,874 (GRCm39) |
R366H |
possibly damaging |
Het |
| Adgre1 |
T |
A |
17: 57,713,874 (GRCm39) |
H186Q |
probably benign |
Het |
| Ankmy1 |
G |
T |
1: 92,812,572 (GRCm39) |
A579E |
probably damaging |
Het |
| Ap2b1 |
C |
A |
11: 83,215,476 (GRCm39) |
T140K |
probably damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,508 (GRCm39) |
E158D |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,199,986 (GRCm39) |
F885L |
probably damaging |
Het |
| Barx2 |
A |
G |
9: 31,758,092 (GRCm39) |
L282S |
unknown |
Het |
| Catsper2 |
C |
T |
2: 121,237,890 (GRCm39) |
W163* |
probably null |
Het |
| Cep295 |
T |
C |
9: 15,246,549 (GRCm39) |
T588A |
possibly damaging |
Het |
| Chil3 |
T |
G |
3: 106,067,686 (GRCm39) |
K160Q |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,452,749 (GRCm39) |
Q578L |
probably damaging |
Het |
| Crp |
A |
C |
1: 172,526,304 (GRCm39) |
I130L |
probably benign |
Het |
| Dtwd2 |
C |
A |
18: 49,857,175 (GRCm39) |
|
probably null |
Het |
| Fads3 |
T |
C |
19: 10,019,175 (GRCm39) |
F27S |
possibly damaging |
Het |
| Gm3604 |
T |
C |
13: 62,517,970 (GRCm39) |
D109G |
probably benign |
Het |
| Gtf2ird1 |
A |
G |
5: 134,392,754 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
C |
T |
17: 34,218,532 (GRCm39) |
|
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,104,770 (GRCm39) |
|
probably benign |
Het |
| Il6st |
G |
A |
13: 112,617,993 (GRCm39) |
V136M |
probably damaging |
Het |
| Immt |
T |
C |
6: 71,828,762 (GRCm39) |
S106P |
probably damaging |
Het |
| Kat2b |
T |
C |
17: 53,960,168 (GRCm39) |
I492T |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,692,715 (GRCm39) |
F97S |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,248,997 (GRCm39) |
I84V |
probably benign |
Het |
| Kif7 |
G |
A |
7: 79,357,296 (GRCm39) |
P637S |
probably benign |
Het |
| Med12l |
T |
A |
3: 58,998,929 (GRCm39) |
C619S |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,317,531 (GRCm39) |
M101K |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,841 (GRCm39) |
S274P |
possibly damaging |
Het |
| Polq |
T |
C |
16: 36,881,147 (GRCm39) |
C1104R |
probably benign |
Het |
| Rbfox2 |
A |
T |
15: 77,190,568 (GRCm39) |
M59K |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,383,290 (GRCm39) |
V110A |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
T |
A |
10: 22,540,685 (GRCm39) |
V180D |
probably damaging |
Het |
| Sox21 |
CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC |
CCAGCGGCGGCGGCGGCAGCGGC |
14: 118,472,548 (GRCm39) |
|
probably benign |
Het |
| Stap2 |
C |
T |
17: 56,304,604 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,582,041 (GRCm39) |
T419A |
probably benign |
Het |
| Tmprss11a |
G |
A |
5: 86,559,668 (GRCm39) |
Q375* |
probably null |
Het |
| Trav12-3 |
CTCTG |
CTCTGTCTG |
14: 53,859,693 (GRCm39) |
|
probably null |
Het |
| Vmn1r88 |
T |
A |
7: 12,911,907 (GRCm39) |
S88T |
possibly damaging |
Het |
| Zfp622 |
T |
A |
15: 25,991,623 (GRCm39) |
D143E |
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 |
|
R4484:Lrrcc1
|
UTSW |
3 |
14,616,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCTAGTAGCTTGGTTGGCTTTAGAC -3'
(R):5'- AGGCTAAAACATTGTCTTCTGGTG -3'
Sequencing Primer
(F):5'- AGCTTGGTTGGCTTTAGACATAATC -3'
(R):5'- TGTCTTCTGGTGTACTTTTAAATTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation