Incidental Mutation 'R8497:Lrrcc1'
| ID |
658306 |
| 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 |
067939-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8497 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14605044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 138
(D138G)
|
| 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 benign
Transcript: ENSMUST00000091325
AA Change: D260G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: D260G
| 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: D260G
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: D260G
| 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: D138G
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: D138G
| 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 benign
Transcript: ENSMUST00000169079
AA Change: D260G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: D260G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
T |
19: 31,923,250 (GRCm39) |
H509Y |
probably benign |
Het |
| Afm |
A |
T |
5: 90,699,202 (GRCm39) |
|
probably null |
Het |
| Apc |
G |
A |
18: 34,446,083 (GRCm39) |
C975Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 88,914,951 (GRCm39) |
M1860I |
probably benign |
Het |
| Bdkrb1 |
C |
T |
12: 105,570,463 (GRCm39) |
Q10* |
probably null |
Het |
| Bphl |
A |
G |
13: 34,221,706 (GRCm39) |
K21E |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,355,918 (GRCm39) |
N837D |
probably benign |
Het |
| Cat |
C |
G |
2: 103,287,221 (GRCm39) |
A470P |
probably damaging |
Het |
| Cdc34 |
G |
T |
10: 79,520,845 (GRCm39) |
D11Y |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,387,320 (GRCm39) |
E1936G |
probably damaging |
Het |
| Cnot6 |
A |
T |
11: 49,566,191 (GRCm39) |
N501K |
possibly damaging |
Het |
| Cyth3 |
A |
C |
5: 143,678,328 (GRCm39) |
D44A |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,408,168 (GRCm39) |
G1888D |
probably damaging |
Het |
| Ffar1 |
T |
G |
7: 30,560,334 (GRCm39) |
I188L |
probably benign |
Het |
| Fhip1b |
G |
T |
7: 105,030,396 (GRCm39) |
D820E |
probably damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,173 (GRCm39) |
Y297H |
probably damaging |
Het |
| H2-M10.5 |
A |
C |
17: 37,084,729 (GRCm39) |
E151A |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,455,990 (GRCm39) |
R5310K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,313,357 (GRCm39) |
L3522P |
possibly damaging |
Het |
| Hs2st1 |
T |
G |
3: 144,140,452 (GRCm39) |
T290P |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,715,066 (GRCm39) |
L231F |
probably benign |
Het |
| Itgav |
T |
A |
2: 83,615,805 (GRCm39) |
C529S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,875,179 (GRCm39) |
R376S |
probably benign |
Het |
| Mat1a |
C |
T |
14: 40,843,851 (GRCm39) |
R357W |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mtss2 |
T |
C |
8: 111,465,222 (GRCm39) |
V492A |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,752,771 (GRCm39) |
V330A |
probably damaging |
Het |
| Neu3 |
A |
T |
7: 99,472,342 (GRCm39) |
|
probably null |
Het |
| Nfx1 |
A |
G |
4: 40,976,968 (GRCm39) |
D214G |
possibly damaging |
Het |
| Or2a14 |
T |
C |
6: 43,130,818 (GRCm39) |
L193P |
probably damaging |
Het |
| Or2y17 |
G |
A |
11: 49,231,721 (GRCm39) |
D121N |
probably damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,964 (GRCm39) |
I104F |
possibly damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,707 (GRCm39) |
T102A |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,582,349 (GRCm39) |
H485L |
probably benign |
Het |
| Pdss2 |
A |
C |
10: 43,289,521 (GRCm39) |
K342T |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,647,570 (GRCm39) |
S254P |
probably damaging |
Het |
| Prelid1 |
A |
G |
13: 55,470,833 (GRCm39) |
D87G |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,279,709 (GRCm39) |
C190F |
probably damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,837 (GRCm39) |
S116P |
possibly damaging |
Het |
| Rassf6 |
A |
G |
5: 90,779,391 (GRCm39) |
V14A |
possibly damaging |
Het |
| Ripk1 |
T |
C |
13: 34,211,934 (GRCm39) |
S415P |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,386,132 (GRCm39) |
K344* |
probably null |
Het |
| Sacs |
G |
A |
14: 61,429,702 (GRCm39) |
R587Q |
probably benign |
Het |
| Skp2 |
A |
T |
15: 9,127,971 (GRCm39) |
|
probably null |
Het |
| Spata31d1a |
T |
C |
13: 59,848,988 (GRCm39) |
K1047E |
possibly damaging |
Het |
| Spopfm2 |
T |
A |
3: 94,083,119 (GRCm39) |
I231F |
possibly damaging |
Het |
| Szt2 |
G |
A |
4: 118,245,518 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,740,152 (GRCm39) |
M433T |
probably benign |
Het |
| Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
| Utp23 |
C |
T |
15: 51,745,614 (GRCm39) |
T144I |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,455,134 (GRCm39) |
M1V |
probably null |
Het |
| Wdfy4 |
C |
T |
14: 32,688,356 (GRCm39) |
V2926M |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,578,021 (GRCm39) |
K1031E |
probably 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 |
|
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 |
|
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'- CCCCTGAATATAAGTGAAGATGAGG -3'
(R):5'- CAATCTGATGATTCTGGTTGGTCAAC -3'
Sequencing Primer
(F):5'- GTGAAGATGAGGTAAAGTATTGATGG -3'
(R):5'- GATTCTGGTTGGTCAACTTATGTAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation