Incidental Mutation 'R5900:Lrrcc1'
ID |
501635 |
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 |
044099-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5900 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 14627186 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 704
(S704R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128733
(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: S810R
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088875 Gene: ENSMUSG00000027550 AA Change: S810R
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: S826R
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000104007 Gene: ENSMUSG00000027550 AA Change: S826R
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: S704R
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000128733 Gene: ENSMUSG00000027550 AA Change: S704R
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 |
noncoding transcript
Transcript: ENSMUST00000163943
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167858
AA Change: S405R
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129368 Gene: ENSMUSG00000027550 AA Change: S405R
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: S826R
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000126560 Gene: ENSMUSG00000027550 AA Change: S826R
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 benign
Transcript: ENSMUST00000169799
|
SMART Domains |
Protein: ENSMUSP00000126592 Gene: ENSMUSG00000027550
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
131 |
N/A |
INTRINSIC |
coiled coil region
|
200 |
228 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
T |
A |
11: 110,169,982 (GRCm39) |
T1341S |
possibly damaging |
Het |
Abcc12 |
T |
C |
8: 87,293,149 (GRCm39) |
D13G |
possibly damaging |
Het |
Adam24 |
T |
C |
8: 41,134,071 (GRCm39) |
V513A |
probably benign |
Het |
Adgrg6 |
C |
T |
10: 14,314,163 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,617,805 (GRCm39) |
T1995A |
probably benign |
Het |
Apoh |
G |
T |
11: 108,302,843 (GRCm39) |
K269N |
probably damaging |
Het |
Bahcc1 |
C |
T |
11: 120,175,319 (GRCm39) |
L1798F |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,464,597 (GRCm39) |
C1454S |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,633 (GRCm39) |
D689G |
possibly damaging |
Het |
Cpa5 |
T |
C |
6: 30,615,115 (GRCm39) |
V84A |
probably damaging |
Het |
Ctsh |
T |
C |
9: 89,946,621 (GRCm39) |
I116T |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,199,515 (GRCm39) |
E1463V |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,166 (GRCm39) |
|
probably null |
Het |
Dstyk |
G |
A |
1: 132,384,717 (GRCm39) |
R737Q |
probably damaging |
Het |
Galr1 |
A |
G |
18: 82,411,982 (GRCm39) |
S295P |
probably damaging |
Het |
Gpx2 |
A |
G |
12: 76,839,653 (GRCm39) |
V115A |
probably damaging |
Het |
Hhipl2 |
A |
G |
1: 183,207,597 (GRCm39) |
I219V |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,244,445 (GRCm39) |
M214V |
possibly damaging |
Het |
Lrfn2 |
T |
C |
17: 49,377,291 (GRCm39) |
V124A |
possibly damaging |
Het |
Marveld2 |
T |
C |
13: 100,748,176 (GRCm39) |
Y301C |
probably damaging |
Het |
Mcpt8 |
T |
C |
14: 56,319,740 (GRCm39) |
I237V |
probably damaging |
Het |
Mtus1 |
A |
T |
8: 41,536,534 (GRCm39) |
V394D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,978,265 (GRCm39) |
D821E |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 93,564,156 (GRCm39) |
D1058G |
probably damaging |
Het |
Pld2 |
G |
A |
11: 70,446,888 (GRCm39) |
|
probably null |
Het |
Prdm2 |
A |
G |
4: 142,861,290 (GRCm39) |
S667P |
probably damaging |
Het |
Ptgdr2 |
A |
T |
19: 10,918,352 (GRCm39) |
|
probably null |
Het |
Rfx7 |
C |
T |
9: 72,524,538 (GRCm39) |
T576I |
probably benign |
Het |
Safb |
T |
C |
17: 56,907,349 (GRCm39) |
C426R |
unknown |
Het |
Serpina9 |
G |
A |
12: 103,975,130 (GRCm39) |
R8* |
probably null |
Het |
Shank3 |
G |
A |
15: 89,387,593 (GRCm39) |
R254Q |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,694,837 (GRCm39) |
V306A |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,621,853 (GRCm39) |
T305A |
probably benign |
Het |
Tdrd5 |
A |
T |
1: 156,105,005 (GRCm39) |
C463* |
probably null |
Het |
Tmem132d |
A |
T |
5: 128,346,336 (GRCm39) |
L62Q |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,220,784 (GRCm39) |
L2507H |
probably damaging |
Het |
Usp45 |
T |
C |
4: 21,830,451 (GRCm39) |
V702A |
probably damaging |
Het |
Wnk2 |
A |
G |
13: 49,256,308 (GRCm39) |
I271T |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,805,125 (GRCm39) |
L2640I |
probably damaging |
Het |
Znrf3 |
G |
T |
11: 5,232,110 (GRCm39) |
H468N |
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 |
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'- TGACAGACCCTTCCTGCATG -3'
(R):5'- TCACTGGCAAGTAGTGTATAATACCTG -3'
Sequencing Primer
(F):5'- TCCTGCATGCCTGGGTC -3'
(R):5'- GCAAGTAGTGTATAATACCTGTAAGC -3'
|
Posted On |
2017-12-01 |