Incidental Mutation 'R9572:Lrrcc1'
| ID |
722040 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
14598848-14637718 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 14601148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 60
(W60*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091325]
[ENSMUST00000108370]
[ENSMUST00000163660]
[ENSMUST00000165436]
[ENSMUST00000169079]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000091325
AA Change: W60*
|
| SMART Domains |
Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: W60*
| 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 null
Transcript: ENSMUST00000108370
AA Change: W60*
|
| SMART Domains |
Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: W60*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
| 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 null
Transcript: ENSMUST00000165436
AA Change: W60*
|
| SMART Domains |
Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550
AA Change: W60*
| 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 null
Transcript: ENSMUST00000169079
AA Change: W60*
|
| SMART Domains |
Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: W60*
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
C |
7: 78,748,477 (GRCm39) |
S1083P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,487,017 (GRCm39) |
R140L |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,505,976 (GRCm39) |
T620K |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,204,293 (GRCm39) |
|
probably null |
Het |
| Apol9a |
C |
T |
15: 77,288,804 (GRCm39) |
A188T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,960,188 (GRCm39) |
K2307E |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 65,299,872 (GRCm39) |
S1292R |
unknown |
Het |
| Asxl3 |
T |
A |
18: 22,649,112 (GRCm39) |
V367D |
probably benign |
Het |
| B3gnt7 |
T |
A |
1: 86,233,492 (GRCm39) |
L246Q |
probably damaging |
Het |
| B4gat1 |
T |
G |
19: 5,089,474 (GRCm39) |
L157R |
probably damaging |
Het |
| Bag4 |
A |
T |
8: 26,258,303 (GRCm39) |
Y341* |
probably null |
Het |
| Bccip |
G |
A |
7: 133,322,478 (GRCm39) |
D275N |
probably damaging |
Het |
| Cd109 |
T |
A |
9: 78,567,588 (GRCm39) |
F267I |
probably benign |
Het |
| Cfap221 |
T |
A |
1: 119,873,566 (GRCm39) |
D487V |
probably damaging |
Het |
| Chpt1 |
T |
C |
10: 88,316,806 (GRCm39) |
I217M |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,377,338 (GRCm39) |
T654A |
probably benign |
Het |
| Ctsr |
A |
G |
13: 61,310,978 (GRCm39) |
S23P |
probably benign |
Het |
| Dst |
T |
A |
1: 34,250,252 (GRCm39) |
Y2055N |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,083,953 (GRCm39) |
I213F |
probably benign |
Het |
| Grb14 |
A |
G |
2: 64,763,680 (GRCm39) |
Y232H |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,301 (GRCm39) |
N190S |
probably benign |
Het |
| Hrnr |
A |
G |
3: 93,239,467 (GRCm39) |
Y3235C |
unknown |
Het |
| Iws1 |
T |
A |
18: 32,203,257 (GRCm39) |
S44R |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,745,042 (GRCm39) |
T1713S |
probably benign |
Het |
| Lama4 |
C |
T |
10: 38,959,271 (GRCm39) |
R1230C |
probably damaging |
Het |
| Mcur1 |
A |
G |
13: 43,713,433 (GRCm39) |
F57S |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,234,334 (GRCm39) |
L4P |
probably benign |
Het |
| Msh5 |
T |
C |
17: 35,250,369 (GRCm39) |
Y548C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,359,821 (GRCm39) |
T472A |
probably benign |
Het |
| Nckap5 |
T |
A |
1: 125,955,454 (GRCm39) |
N366I |
probably benign |
Het |
| Nr4a3 |
T |
A |
4: 48,051,258 (GRCm39) |
V4E |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,228,179 (GRCm39) |
V175L |
probably damaging |
Het |
| Or2ag13 |
A |
G |
7: 106,313,546 (GRCm39) |
L114P |
probably damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,928 (GRCm39) |
I32F |
possibly damaging |
Het |
| Or5w1 |
A |
G |
2: 87,486,914 (GRCm39) |
V117A |
probably benign |
Het |
| Or8b49 |
A |
T |
9: 38,505,627 (GRCm39) |
I37L |
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,264,561 (GRCm39) |
|
probably benign |
Het |
| Pomk |
T |
C |
8: 26,472,936 (GRCm39) |
D339G |
possibly damaging |
Het |
| Ppp2r5e |
A |
T |
12: 75,562,468 (GRCm39) |
Y88N |
probably benign |
Het |
| Ptma |
T |
A |
1: 86,457,697 (GRCm39) |
V100E |
unknown |
Het |
| Rab3b |
T |
C |
4: 108,786,725 (GRCm39) |
|
probably null |
Het |
| Rp1 |
G |
A |
1: 4,418,662 (GRCm39) |
H817Y |
probably benign |
Het |
| Rpn1 |
T |
A |
6: 88,078,994 (GRCm39) |
I479N |
probably damaging |
Het |
| Sdk1 |
G |
A |
5: 141,595,784 (GRCm39) |
G147R |
probably damaging |
Het |
| Serpina3i |
C |
A |
12: 104,234,743 (GRCm39) |
T358K |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,002,058 (GRCm39) |
K231R |
possibly damaging |
Het |
| Skint6 |
C |
T |
4: 112,985,128 (GRCm39) |
V413I |
probably benign |
Het |
| Spata7 |
T |
C |
12: 98,614,655 (GRCm39) |
C96R |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,066,095 (GRCm39) |
V1991E |
probably benign |
Het |
| Sstr2 |
A |
G |
11: 113,516,017 (GRCm39) |
Y312C |
probably damaging |
Het |
| Taco1 |
T |
A |
11: 105,963,938 (GRCm39) |
D232E |
possibly damaging |
Het |
| Tcerg1l |
C |
T |
7: 137,881,787 (GRCm39) |
A301T |
probably benign |
Het |
| Tmub2 |
T |
A |
11: 102,176,541 (GRCm39) |
M11K |
|
Het |
| Trpc6 |
T |
A |
9: 8,656,622 (GRCm39) |
V761D |
possibly damaging |
Het |
| Ttll13 |
A |
T |
7: 79,908,008 (GRCm39) |
N510I |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,816,770 (GRCm39) |
N538D |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,513 (GRCm39) |
Y75F |
probably benign |
Het |
| Vwa5a |
A |
G |
9: 38,649,239 (GRCm39) |
I662M |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,984,166 (GRCm39) |
S459P |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,349,559 (GRCm39) |
T1644I |
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 |
|
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 |
|
R9788:Lrrcc1
|
UTSW |
3 |
14,602,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCAACTGCTTAAGAGTTTG -3'
(R):5'- ATTGATAGTGAAATCAACGGCC -3'
Sequencing Primer
(F):5'- CTCATTTTCAGCTACCAGAAGAGGG -3'
(R):5'- GTGAAATCAACGGCCATTTTTGGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation