Incidental Mutation 'IGL01862:Lrch4'
| ID |
178371 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrch4
|
| Ensembl Gene |
ENSMUSG00000093445 |
| Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 4 |
| Synonyms |
LRRN4, LRN, 2810008P14Rik, 2900069C24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
IGL01862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137635271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 254
(I254F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176011]
[ENSMUST00000176667]
[ENSMUST00000177545]
[ENSMUST00000177477]
[ENSMUST00000177466]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031734
AA Change: I254F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
AA Change: I254F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166099
|
| SMART Domains |
Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SAP25
|
76 |
261 |
1.8e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175968
AA Change: I200F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
AA Change: I200F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
LRR
|
36 |
58 |
4.84e1 |
SMART |
|
LRR_TYP
|
59 |
82 |
4.61e-5 |
SMART |
|
LRR
|
104 |
126 |
2.63e0 |
SMART |
|
LRR_TYP
|
127 |
150 |
1.1e-2 |
SMART |
|
LRR
|
172 |
195 |
3.98e1 |
SMART |
|
low complexity region
|
335 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
456 |
476 |
N/A |
INTRINSIC |
|
CH
|
479 |
588 |
9.24e-15 |
SMART |
|
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176011
|
| SMART Domains |
Protein: ENSMUSP00000135133
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176256
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176667
AA Change: I254F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
AA Change: I254F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
648 |
4.73e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176768
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177545
AA Change: I254F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
AA Change: I254F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
LRR
|
90 |
112 |
4.84e1 |
SMART |
|
LRR_TYP
|
113 |
136 |
4.61e-5 |
SMART |
|
LRR
|
158 |
180 |
2.63e0 |
SMART |
|
LRR_TYP
|
181 |
204 |
1.1e-2 |
SMART |
|
LRR
|
226 |
249 |
3.98e1 |
SMART |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
440 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
530 |
N/A |
INTRINSIC |
|
CH
|
533 |
642 |
9.24e-15 |
SMART |
|
transmembrane domain
|
656 |
678 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177477
|
| SMART Domains |
Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177466
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
T |
11: 109,837,997 (GRCm39) |
S1085* |
probably null |
Het |
| Akap9 |
T |
G |
5: 4,001,705 (GRCm39) |
S94A |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,115,856 (GRCm39) |
N3425K |
probably damaging |
Het |
| Anapc7 |
T |
A |
5: 122,578,182 (GRCm39) |
I389N |
probably benign |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
| Cacna1h |
C |
T |
17: 25,602,457 (GRCm39) |
G1524R |
probably damaging |
Het |
| Cacng4 |
T |
C |
11: 107,685,196 (GRCm39) |
Y32C |
probably damaging |
Het |
| Cep120 |
A |
C |
18: 53,847,839 (GRCm39) |
S673R |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,135,986 (GRCm39) |
E19G |
possibly damaging |
Het |
| Cpxm2 |
C |
T |
7: 131,661,540 (GRCm39) |
V416I |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,874,424 (GRCm39) |
T427A |
probably benign |
Het |
| Ecm1 |
A |
T |
3: 95,641,586 (GRCm39) |
D549E |
probably benign |
Het |
| Efemp1 |
T |
A |
11: 28,871,428 (GRCm39) |
N342K |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,993,526 (GRCm39) |
|
probably benign |
Het |
| Fhip2b |
C |
T |
14: 70,825,130 (GRCm39) |
R402H |
probably benign |
Het |
| Galnt13 |
T |
C |
2: 54,747,926 (GRCm39) |
V269A |
probably damaging |
Het |
| Gm6465 |
T |
G |
5: 11,899,020 (GRCm39) |
L171R |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,994,703 (GRCm39) |
V521A |
probably benign |
Het |
| Heatr5b |
A |
T |
17: 79,103,914 (GRCm39) |
V1087E |
possibly damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,057 (GRCm39) |
V484D |
probably damaging |
Het |
| Ints4 |
T |
A |
7: 97,190,360 (GRCm39) |
V953E |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,685,480 (GRCm39) |
D15G |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,461,368 (GRCm39) |
N4K |
possibly damaging |
Het |
| Ly75 |
A |
T |
2: 60,129,516 (GRCm39) |
V1623D |
probably damaging |
Het |
| Mapt |
T |
A |
11: 104,180,828 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
A |
T |
8: 85,639,875 (GRCm39) |
|
probably null |
Het |
| Mcc |
G |
T |
18: 44,892,363 (GRCm39) |
Q84K |
probably benign |
Het |
| Mgat4f |
G |
A |
1: 134,318,349 (GRCm39) |
V374I |
probably benign |
Het |
| Mtfr2 |
G |
A |
10: 20,224,149 (GRCm39) |
V28M |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,520 (GRCm39) |
Y585* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,231,917 (GRCm39) |
V202A |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,001,080 (GRCm39) |
K199R |
probably null |
Het |
| Ntpcr |
C |
T |
8: 126,462,837 (GRCm39) |
A18V |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,426 (GRCm39) |
M69K |
probably damaging |
Het |
| Or2g25 |
G |
T |
17: 37,970,368 (GRCm39) |
N285K |
probably damaging |
Het |
| Or56b35 |
T |
A |
7: 104,963,439 (GRCm39) |
I76N |
probably damaging |
Het |
| Or5g9 |
G |
T |
2: 85,552,472 (GRCm39) |
C241F |
probably damaging |
Het |
| Or8b9 |
A |
G |
9: 37,766,477 (GRCm39) |
D121G |
probably damaging |
Het |
| Os9 |
A |
G |
10: 126,935,573 (GRCm39) |
V299A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,915 (GRCm39) |
S684P |
possibly damaging |
Het |
| Phf19 |
A |
C |
2: 34,787,067 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
G |
A |
8: 110,357,908 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
A |
G |
1: 20,429,134 (GRCm39) |
I2422T |
probably damaging |
Het |
| Plxna2 |
T |
A |
1: 194,326,258 (GRCm39) |
V64E |
possibly damaging |
Het |
| Psme4 |
T |
A |
11: 30,762,038 (GRCm39) |
C459* |
probably null |
Het |
| Ptk6 |
T |
C |
2: 180,841,433 (GRCm39) |
S159G |
probably benign |
Het |
| Rhd |
T |
C |
4: 134,617,650 (GRCm39) |
I329T |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,492,494 (GRCm39) |
Y601C |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,110,148 (GRCm39) |
S1753P |
probably damaging |
Het |
| Slc8a1 |
A |
C |
17: 81,749,630 (GRCm39) |
|
probably null |
Het |
| Spg7 |
T |
A |
8: 123,803,669 (GRCm39) |
L233Q |
probably damaging |
Het |
| Strip1 |
C |
A |
3: 107,529,198 (GRCm39) |
R353L |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,823 (GRCm39) |
N544D |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,204,469 (GRCm39) |
T4794A |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,266,095 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,984 (GRCm39) |
C3S |
probably benign |
Het |
| Yju2b |
G |
T |
8: 84,987,163 (GRCm39) |
|
probably benign |
Het |
| Zdhhc5 |
C |
T |
2: 84,520,836 (GRCm39) |
R447H |
probably benign |
Het |
| Zfp202 |
A |
G |
9: 40,123,124 (GRCm39) |
I629V |
probably benign |
Het |
| Zfp462 |
T |
A |
4: 55,023,441 (GRCm39) |
C990S |
probably damaging |
Het |
|
| Other mutations in Lrch4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Lrch4
|
APN |
5 |
137,636,009 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03289:Lrch4
|
APN |
5 |
137,631,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0144:Lrch4
|
UTSW |
5 |
137,636,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0724:Lrch4
|
UTSW |
5 |
137,635,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1330:Lrch4
|
UTSW |
5 |
137,636,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1557:Lrch4
|
UTSW |
5 |
137,635,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Lrch4
|
UTSW |
5 |
137,636,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2358:Lrch4
|
UTSW |
5 |
137,636,810 (GRCm39) |
unclassified |
probably benign |
|
|
R3755:Lrch4
|
UTSW |
5 |
137,635,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Lrch4
|
UTSW |
5 |
137,635,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4608:Lrch4
|
UTSW |
5 |
137,637,408 (GRCm39) |
nonsense |
probably null |
|
|
R5056:Lrch4
|
UTSW |
5 |
137,635,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5114:Lrch4
|
UTSW |
5 |
137,636,179 (GRCm39) |
missense |
probably benign |
|
|
R5181:Lrch4
|
UTSW |
5 |
137,627,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Lrch4
|
UTSW |
5 |
137,636,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5430:Lrch4
|
UTSW |
5 |
137,636,795 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5712:Lrch4
|
UTSW |
5 |
137,636,188 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5846:Lrch4
|
UTSW |
5 |
137,631,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5909:Lrch4
|
UTSW |
5 |
137,632,127 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7319:Lrch4
|
UTSW |
5 |
137,637,977 (GRCm39) |
missense |
|
|
|
R7525:Lrch4
|
UTSW |
5 |
137,637,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Lrch4
|
UTSW |
5 |
137,638,025 (GRCm39) |
missense |
|
|
|
R7848:Lrch4
|
UTSW |
5 |
137,632,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Lrch4
|
UTSW |
5 |
137,637,997 (GRCm39) |
missense |
|
|
|
R8226:Lrch4
|
UTSW |
5 |
137,637,997 (GRCm39) |
missense |
|
|
|
R8713:Lrch4
|
UTSW |
5 |
137,638,125 (GRCm39) |
nonsense |
probably null |
|
|
R9361:Lrch4
|
UTSW |
5 |
137,635,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Lrch4
|
UTSW |
5 |
137,631,953 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9440:Lrch4
|
UTSW |
5 |
137,636,051 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9752:Lrch4
|
UTSW |
5 |
137,636,218 (GRCm39) |
missense |
probably benign |
|
|
R9796:Lrch4
|
UTSW |
5 |
137,635,269 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF009:Lrch4
|
UTSW |
5 |
137,635,805 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation