Incidental Mutation 'R7342:Lrrcc1'
| ID |
569914 |
| 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 |
045432-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7342 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14619431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 606
(C606S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000167858]
[ENSMUST00000169079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091325
AA Change: C590S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: C590S
| 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: C606S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: C606S
| 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: C484S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: C484S
| 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: ENSMUST00000167858
AA Change: C185S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550
AA Change: C185S
| 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: C606S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: C606S
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550
AA Change: C95S
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aarsd1 |
T |
G |
11: 101,308,018 (GRCm39) |
T28P |
probably benign |
Het |
| Abcc1 |
C |
A |
16: 14,283,033 (GRCm39) |
R1170S |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,566,304 (GRCm39) |
N568S |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,926,467 (GRCm39) |
R65G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,310,804 (GRCm39) |
I136L |
probably benign |
Het |
| Ash1l |
G |
T |
3: 88,873,304 (GRCm39) |
G29V |
possibly damaging |
Het |
| Atp6v0a2 |
A |
G |
5: 124,784,676 (GRCm39) |
T320A |
probably damaging |
Het |
| B4gat1 |
G |
A |
19: 5,089,686 (GRCm39) |
V228M |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,691,536 (GRCm39) |
H450L |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,692 (GRCm39) |
N599K |
possibly damaging |
Het |
| Cblif |
A |
T |
19: 11,740,587 (GRCm39) |
H407L |
probably benign |
Het |
| Cel |
A |
T |
2: 28,450,649 (GRCm39) |
Y125* |
probably null |
Het |
| Cfi |
T |
A |
3: 129,668,781 (GRCm39) |
N602K |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,713,887 (GRCm39) |
A190T |
probably damaging |
Het |
| Cmklr1 |
C |
T |
5: 113,752,354 (GRCm39) |
V216M |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 115,987,852 (GRCm39) |
T128A |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,710,610 (GRCm39) |
T342A |
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,041 (GRCm39) |
E298G |
probably damaging |
Het |
| Ctsh |
A |
T |
9: 89,957,040 (GRCm39) |
E307V |
probably benign |
Het |
| Cxcl10 |
T |
A |
5: 92,496,029 (GRCm39) |
D36V |
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,150,432 (GRCm39) |
T73A |
probably benign |
Het |
| Dnah3 |
T |
G |
7: 119,629,208 (GRCm39) |
E1449A |
probably damaging |
Het |
| Dpp6 |
T |
C |
5: 27,919,552 (GRCm39) |
M683T |
probably benign |
Het |
| Foxn4 |
C |
A |
5: 114,396,760 (GRCm39) |
W241L |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,621,033 (GRCm39) |
I219V |
probably benign |
Het |
| Gtf2f2 |
T |
C |
14: 76,144,317 (GRCm39) |
D179G |
probably damaging |
Het |
| Ighg2b |
A |
G |
12: 113,270,050 (GRCm39) |
Y323H |
|
Het |
| Itpr2 |
A |
T |
6: 146,228,685 (GRCm39) |
H1303Q |
probably damaging |
Het |
| Kif1b |
A |
C |
4: 149,298,547 (GRCm39) |
Y1040D |
possibly damaging |
Het |
| Lbr |
C |
T |
1: 181,653,186 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
G |
2: 69,309,634 (GRCm39) |
V2755A |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,275,917 (GRCm39) |
E6217G |
probably damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,418 (GRCm39) |
V1687A |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,864 (GRCm39) |
F15I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,679 (GRCm39) |
S1605T |
probably damaging |
Het |
| Nuak1 |
T |
C |
10: 84,210,831 (GRCm39) |
E419G |
probably damaging |
Het |
| Or14a260 |
G |
A |
7: 85,985,295 (GRCm39) |
T103I |
probably benign |
Het |
| Or8c18 |
A |
G |
9: 38,203,574 (GRCm39) |
Y111C |
probably damaging |
Het |
| Paip2b |
T |
A |
6: 83,791,808 (GRCm39) |
S25C |
probably damaging |
Het |
| Pgbd5 |
G |
A |
8: 125,160,709 (GRCm39) |
R53C |
probably benign |
Het |
| Plin4 |
T |
C |
17: 56,411,608 (GRCm39) |
T808A |
probably benign |
Het |
| Pramel11 |
A |
T |
4: 143,623,520 (GRCm39) |
I218K |
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,232,549 (GRCm39) |
D872G |
probably benign |
Het |
| Ptf1a |
A |
G |
2: 19,451,977 (GRCm39) |
*325W |
probably null |
Het |
| Ptprg |
T |
C |
14: 12,237,151 (GRCm38) |
V1390A |
possibly damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,033,771 (GRCm39) |
T2A |
probably damaging |
Het |
| Rpl18a |
T |
C |
8: 71,348,042 (GRCm39) |
N214D |
unknown |
Het |
| Scp2 |
T |
A |
4: 107,948,518 (GRCm39) |
Y197F |
probably benign |
Het |
| Sftpb |
G |
A |
6: 72,286,858 (GRCm39) |
R254H |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,378,555 (GRCm39) |
L246P |
probably damaging |
Het |
| Slc38a9 |
G |
T |
13: 112,806,125 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
T |
5: 31,693,634 (GRCm39) |
L523F |
possibly damaging |
Het |
| Spats2l |
C |
A |
1: 57,925,106 (GRCm39) |
T168K |
possibly damaging |
Het |
| Sstr1 |
A |
G |
12: 58,260,456 (GRCm39) |
S360G |
possibly damaging |
Het |
| Taf1b |
A |
T |
12: 24,608,343 (GRCm39) |
K581* |
probably null |
Het |
| Tfip11 |
T |
A |
5: 112,475,838 (GRCm39) |
M1K |
probably null |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,551,583 (GRCm39) |
H48Y |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,232,384 (GRCm39) |
H1489L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,258,703 (GRCm39) |
L1346P |
probably damaging |
Het |
| Vmac |
T |
C |
17: 57,022,644 (GRCm39) |
E122G |
probably benign |
Het |
| Vmn2r125 |
T |
C |
4: 156,703,138 (GRCm39) |
V172A |
probably damaging |
Het |
| Zfp54 |
A |
G |
17: 21,648,014 (GRCm39) |
|
probably benign |
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 |
|
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'- GCTTTGTGCAAGGTGACAAATG -3'
(R):5'- CATATAGTCATCTCATTTTGGGTGG -3'
Sequencing Primer
(F):5'- ctgccagcaccatttaAGA -3'
(R):5'- CCAAAATGTGGTCCTTTTATCAGTAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation