Incidental Mutation 'R0635:Lrrcc1'
ID |
56594 |
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 |
038824-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0635 (G1)
|
Quality Score |
117 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 14624288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 350
(S350N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129368
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000167858]
[ENSMUST00000169079]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091325
AA Change: S755N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000088875 Gene: ENSMUSG00000027550 AA Change: S755N
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 benign
Transcript: ENSMUST00000108370
AA Change: S771N
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000104007 Gene: ENSMUSG00000027550 AA Change: S771N
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 benign
Transcript: ENSMUST00000163660
AA Change: S649N
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000128733 Gene: ENSMUSG00000027550 AA Change: S649N
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: ENSMUST00000167858
AA Change: S350N
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000129368 Gene: ENSMUSG00000027550 AA Change: S350N
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 |
probably benign
Transcript: ENSMUST00000169079
AA Change: S771N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000126560 Gene: ENSMUSG00000027550 AA Change: S771N
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 |
unknown
Transcript: ENSMUST00000169799
AA Change: S198N
|
SMART Domains |
Protein: ENSMUSP00000126592 Gene: ENSMUSG00000027550 AA Change: S198N
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730455P16Rik |
A |
T |
11: 80,264,891 (GRCm39) |
|
probably benign |
Het |
Adamts15 |
A |
G |
9: 30,816,066 (GRCm39) |
L631P |
probably damaging |
Het |
Adamts17 |
T |
C |
7: 66,558,353 (GRCm39) |
F266L |
probably damaging |
Het |
Adgrb1 |
C |
A |
15: 74,412,741 (GRCm39) |
Q488K |
possibly damaging |
Het |
Armh4 |
A |
G |
14: 50,010,600 (GRCm39) |
L369S |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,328,538 (GRCm39) |
D109G |
probably damaging |
Het |
Chil5 |
A |
T |
3: 105,924,519 (GRCm39) |
Y229N |
possibly damaging |
Het |
Cntnap1 |
A |
G |
11: 101,074,285 (GRCm39) |
T742A |
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,735,808 (GRCm39) |
|
probably null |
Het |
Col6a5 |
G |
A |
9: 105,805,805 (GRCm39) |
P1034S |
unknown |
Het |
Daxx |
T |
A |
17: 34,131,618 (GRCm39) |
D442E |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,984,490 (GRCm39) |
|
probably benign |
Het |
Dnah11 |
A |
G |
12: 117,971,731 (GRCm39) |
F2942S |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,895,924 (GRCm39) |
T240A |
probably benign |
Het |
Glg1 |
A |
G |
8: 111,890,396 (GRCm39) |
|
probably benign |
Het |
Gm10272 |
G |
A |
10: 77,542,535 (GRCm39) |
|
probably benign |
Het |
Gm17333 |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA |
16: 77,649,766 (GRCm39) |
|
noncoding transcript |
Het |
Haao |
A |
G |
17: 84,146,003 (GRCm39) |
F83S |
probably damaging |
Het |
Hdgfl2 |
T |
A |
17: 56,403,057 (GRCm39) |
L177Q |
probably damaging |
Het |
Hrh1 |
T |
C |
6: 114,457,106 (GRCm39) |
V129A |
probably damaging |
Het |
Ift43 |
T |
A |
12: 86,131,855 (GRCm39) |
|
probably benign |
Het |
Il21r |
T |
C |
7: 125,231,678 (GRCm39) |
Y369H |
probably damaging |
Het |
Il2ra |
C |
T |
2: 11,685,177 (GRCm39) |
T171M |
probably benign |
Het |
Lao1 |
C |
T |
4: 118,825,493 (GRCm39) |
R438C |
probably benign |
Het |
Mageb5 |
T |
A |
X: 90,823,599 (GRCm39) |
Y260F |
probably benign |
Het |
Marchf5 |
A |
T |
19: 37,197,807 (GRCm39) |
I159F |
possibly damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,375 (GRCm39) |
A282V |
probably benign |
Het |
Mipep |
G |
A |
14: 61,066,839 (GRCm39) |
V420I |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,356,661 (GRCm39) |
F370L |
possibly damaging |
Het |
Mt1 |
A |
T |
8: 94,906,449 (GRCm39) |
|
probably null |
Het |
Ncapd2 |
A |
G |
6: 125,149,999 (GRCm39) |
V943A |
probably benign |
Het |
Nkd2 |
T |
C |
13: 73,975,013 (GRCm39) |
D58G |
probably benign |
Het |
Nol8 |
C |
G |
13: 49,830,234 (GRCm39) |
S1106C |
probably benign |
Het |
Nrm |
C |
A |
17: 36,175,156 (GRCm39) |
Y61* |
probably null |
Het |
Nusap1 |
A |
G |
2: 119,458,148 (GRCm39) |
T95A |
probably damaging |
Het |
Ocln |
T |
A |
13: 100,642,744 (GRCm39) |
Q197L |
probably damaging |
Het |
Or5p70 |
T |
A |
7: 107,994,971 (GRCm39) |
F215I |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,161 (GRCm39) |
Y200H |
probably damaging |
Het |
Paip2b |
T |
C |
6: 83,786,891 (GRCm39) |
E115G |
possibly damaging |
Het |
Pcm1 |
T |
A |
8: 41,720,216 (GRCm39) |
|
probably benign |
Het |
Pcnt |
T |
C |
10: 76,240,419 (GRCm39) |
D1205G |
probably damaging |
Het |
Phka1 |
G |
A |
X: 101,665,006 (GRCm39) |
R186C |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,946,271 (GRCm39) |
|
probably benign |
Het |
Pik3r1 |
C |
T |
13: 101,893,926 (GRCm39) |
R81K |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,501,219 (GRCm39) |
D162G |
probably benign |
Het |
Ppa1 |
A |
G |
10: 61,502,749 (GRCm39) |
R191G |
probably damaging |
Het |
Ppp4r3c2 |
T |
C |
X: 88,796,128 (GRCm39) |
|
probably benign |
Het |
Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
Rgr |
T |
A |
14: 36,760,904 (GRCm39) |
R218* |
probably null |
Het |
Rreb1 |
A |
T |
13: 38,125,540 (GRCm39) |
Q1282L |
possibly damaging |
Het |
Scel |
T |
A |
14: 103,820,575 (GRCm39) |
|
probably null |
Het |
Sema6b |
A |
G |
17: 56,436,971 (GRCm39) |
|
probably null |
Het |
Slc4a1 |
T |
C |
11: 102,243,498 (GRCm39) |
E711G |
possibly damaging |
Het |
Snx19 |
C |
A |
9: 30,340,106 (GRCm39) |
L415M |
probably damaging |
Het |
Snx19 |
T |
G |
9: 30,340,107 (GRCm39) |
L415R |
probably damaging |
Het |
Specc1 |
G |
A |
11: 62,009,729 (GRCm39) |
R495Q |
probably damaging |
Het |
Tead1 |
T |
C |
7: 112,490,913 (GRCm39) |
|
probably benign |
Het |
Timm10b |
A |
C |
7: 105,289,895 (GRCm39) |
|
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,186,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,605,861 (GRCm39) |
Y258N |
possibly damaging |
Het |
Vmn2r77 |
T |
A |
7: 86,460,383 (GRCm39) |
F570I |
probably benign |
Het |
Vmn2r98 |
T |
C |
17: 19,300,759 (GRCm39) |
V587A |
probably benign |
Het |
Zfp398 |
T |
C |
6: 47,840,074 (GRCm39) |
I101T |
probably damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,233 (GRCm39) |
H487Q |
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 |
|
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 |
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'- TGGAGGCTGAGAGACATCACTCAAG -3'
(R):5'- CCTGCTACCAGCTCTTATCCCAAAGG -3'
Sequencing Primer
(F):5'- TTTCCATATTTTGCATGGGTAGAC -3'
(R):5'- GCATCACAGTCACTTTCATGGC -3'
|
Posted On |
2013-07-11 |