Incidental Mutation 'R8713:Lrch4'
| ID |
669703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrch4
|
| Ensembl Gene |
ENSMUSG00000093445 |
| Gene Name |
leucine-rich repeats and calponin homology (CH) domain containing 4 |
| Synonyms |
LRRN4, LRN, 2810008P14Rik, 2900069C24Rik |
| MMRRC Submission |
068567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.173)
|
| Stock # |
R8713 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
137627385-137639361 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 137638125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 136
(E136*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031734]
[ENSMUST00000057314]
[ENSMUST00000166099]
[ENSMUST00000175968]
[ENSMUST00000176667]
[ENSMUST00000177466]
[ENSMUST00000177477]
[ENSMUST00000177545]
[ENSMUST00000196511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031734
|
| SMART Domains |
Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445
| 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: ENSMUST00000057314
|
| SMART Domains |
Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
135 |
4.46e-11 |
SMART |
|
IRS
|
159 |
272 |
1.18e-30 |
SMART |
|
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
| 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 benign
Transcript: ENSMUST00000175968
|
| SMART Domains |
Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445
| 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: ENSMUST00000176667
|
| SMART Domains |
Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445
| 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 null
Transcript: ENSMUST00000176768
AA Change: E136*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177466
|
| 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: ENSMUST00000177545
|
| SMART Domains |
Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720
| 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: ENSMUST00000196511
|
| SMART Domains |
Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
135 |
4.46e-11 |
SMART |
|
IRS
|
159 |
272 |
1.18e-30 |
SMART |
|
PTBI
|
159 |
272 |
7.23e-55 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Adam18 |
T |
A |
8: 25,142,189 (GRCm39) |
M196L |
probably benign |
Het |
| Ankrd10 |
A |
G |
8: 11,678,491 (GRCm39) |
S134P |
probably damaging |
Het |
| Ano8 |
C |
T |
8: 71,937,721 (GRCm39) |
G47D |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,254,825 (GRCm39) |
V4A |
unknown |
Het |
| Cabp4 |
C |
T |
19: 4,186,159 (GRCm39) |
M247I |
probably benign |
Het |
| Ccdc30 |
A |
T |
4: 119,261,404 (GRCm39) |
L11Q |
probably damaging |
Het |
| Cdkl4 |
A |
G |
17: 80,841,292 (GRCm39) |
S288P |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,707,062 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,979,028 (GRCm39) |
D1788G |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,352,701 (GRCm39) |
D193G |
probably damaging |
Het |
| Dym |
T |
G |
18: 75,189,809 (GRCm39) |
Y132* |
probably null |
Het |
| Dync2h1 |
G |
A |
9: 7,141,008 (GRCm39) |
Q1340* |
probably null |
Het |
| Elmo1 |
T |
C |
13: 20,458,791 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
C |
9: 109,384,667 (GRCm39) |
F378V |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,811,453 (GRCm39) |
G2591R |
probably damaging |
Het |
| Gps2 |
C |
A |
11: 69,806,180 (GRCm39) |
D148E |
probably benign |
Het |
| Iars2 |
T |
C |
1: 185,023,615 (GRCm39) |
D772G |
possibly damaging |
Het |
| Ifit1 |
T |
A |
19: 34,625,038 (GRCm39) |
L58Q |
probably benign |
Het |
| Kctd4 |
A |
T |
14: 76,200,366 (GRCm39) |
Q112H |
probably benign |
Het |
| Letm1 |
A |
G |
5: 33,919,849 (GRCm39) |
L230P |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,407,261 (GRCm39) |
|
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,034,494 (GRCm39) |
L79P |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,453,781 (GRCm39) |
N890K |
probably damaging |
Het |
| Mctp1 |
G |
A |
13: 76,789,922 (GRCm39) |
S270N |
probably benign |
Het |
| Mrpl44 |
C |
T |
1: 79,755,708 (GRCm39) |
R105C |
probably damaging |
Het |
| Mtg1 |
T |
A |
7: 139,717,688 (GRCm39) |
|
probably null |
Het |
| Mtg1 |
T |
C |
7: 139,720,136 (GRCm39) |
F68L |
probably benign |
Het |
| Nfil3 |
A |
G |
13: 53,122,047 (GRCm39) |
S286P |
possibly damaging |
Het |
| Nutm1 |
A |
G |
2: 112,081,667 (GRCm39) |
V332A |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 59,026,792 (GRCm39) |
Q137L |
probably benign |
Het |
| Pcnx2 |
T |
G |
8: 126,545,525 (GRCm39) |
E1162A |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,900,818 (GRCm39) |
D117G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,513,345 (GRCm39) |
C215R |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,109,558 (GRCm39) |
Y461D |
probably damaging |
Het |
| Sbk3 |
C |
T |
7: 4,972,991 (GRCm39) |
V60I |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,494,471 (GRCm39) |
A852E |
possibly damaging |
Het |
| Sec24d |
T |
A |
3: 123,137,541 (GRCm39) |
I561N |
probably damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,218,901 (GRCm39) |
*501Q |
probably null |
Het |
| Slc6a19 |
C |
A |
13: 73,848,740 (GRCm39) |
V5L |
probably benign |
Het |
| Spryd3 |
A |
G |
15: 102,041,920 (GRCm39) |
I34T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,266,040 (GRCm39) |
L2191P |
probably damaging |
Het |
| Tbrg1 |
A |
G |
9: 37,563,955 (GRCm39) |
C227R |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,910 (GRCm39) |
S1713P |
probably benign |
Het |
| Thap12 |
C |
T |
7: 98,356,283 (GRCm39) |
L57F |
probably benign |
Het |
| Top1 |
G |
A |
2: 160,559,360 (GRCm39) |
V628I |
probably damaging |
Het |
| Trim67 |
A |
G |
8: 125,547,074 (GRCm39) |
M495V |
probably null |
Het |
| Trio |
A |
C |
15: 27,744,037 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,991 (GRCm39) |
Y71F |
|
Het |
| Ywhah |
A |
G |
5: 33,184,535 (GRCm39) |
N246S |
probably benign |
Het |
| Zcwpw1 |
T |
C |
5: 137,797,794 (GRCm39) |
I125T |
probably benign |
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 |
|
IGL01862:Lrch4
|
APN |
5 |
137,635,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGGCTCAGCTGAAACTG -3'
(R):5'- GCAGCATGAAGACCACGTAG -3'
Sequencing Primer
(F):5'- GCTCAGCTGAAACTGCATGAG -3'
(R):5'- ACTGGGAGAGGGGCCTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation