Incidental Mutation 'R8233:Lrrc74b'
ID |
637236 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc74b
|
Ensembl Gene |
ENSMUSG00000022759 |
Gene Name |
leucine rich repeat containing 74B |
Synonyms |
4930451C15Rik |
MMRRC Submission |
067665-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R8233 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
17362329-17379111 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 17376089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 187
(H187L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097699
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023441]
[ENSMUST00000023442]
[ENSMUST00000065125]
[ENSMUST00000100123]
[ENSMUST00000168383]
[ENSMUST00000171002]
|
AlphaFold |
Q14BP6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023441
|
SMART Domains |
Protein: ENSMUSP00000023441 Gene: ENSMUSG00000022758
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
Pfam:P2X_receptor
|
25 |
385 |
7.9e-139 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023442
AA Change: H187L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023442 Gene: ENSMUSG00000022759 AA Change: H187L
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
low complexity region
|
342 |
355 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000065125
AA Change: H187L
|
SMART Domains |
Protein: ENSMUSP00000070127 Gene: ENSMUSG00000022759 AA Change: H187L
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100123
AA Change: H187L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000097699 Gene: ENSMUSG00000022759 AA Change: H187L
Domain | Start | End | E-Value | Type |
LRR
|
71 |
103 |
3.9e0 |
SMART |
LRR
|
104 |
131 |
1.04e-3 |
SMART |
LRR
|
132 |
159 |
1.14e1 |
SMART |
LRR
|
160 |
187 |
7.78e-3 |
SMART |
LRR
|
188 |
215 |
3.9e0 |
SMART |
LRR
|
216 |
243 |
7.89e-1 |
SMART |
LRR
|
244 |
271 |
6.78e-3 |
SMART |
LRR
|
272 |
299 |
5.51e-1 |
SMART |
LRR
|
300 |
327 |
4.16e0 |
SMART |
low complexity region
|
374 |
387 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168383
|
SMART Domains |
Protein: ENSMUSP00000130079 Gene: ENSMUSG00000022758
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
Pfam:P2X_receptor
|
25 |
266 |
4.2e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171002
|
SMART Domains |
Protein: ENSMUSP00000132727 Gene: ENSMUSG00000022758
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
18 |
N/A |
INTRINSIC |
Pfam:P2X_receptor
|
25 |
197 |
1e-65 |
PFAM |
Pfam:P2X_receptor
|
185 |
362 |
7e-63 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
A |
T |
18: 70,602,687 (GRCm39) |
V42E |
probably benign |
Het |
Abca12 |
T |
C |
1: 71,390,916 (GRCm39) |
E153G |
probably benign |
Het |
Adamts20 |
A |
C |
15: 94,189,533 (GRCm39) |
I1440S |
probably benign |
Het |
Aspm |
T |
A |
1: 139,385,042 (GRCm39) |
S229T |
probably benign |
Het |
Atp2b2 |
A |
T |
6: 113,742,680 (GRCm39) |
|
probably null |
Het |
Cd101 |
G |
T |
3: 100,900,989 (GRCm39) |
H1032N |
unknown |
Het |
Col6a2 |
A |
G |
10: 76,444,540 (GRCm39) |
|
probably null |
Het |
Crot |
A |
T |
5: 9,026,027 (GRCm39) |
I320K |
possibly damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,772,588 (GRCm39) |
D602E |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,107,160 (GRCm39) |
V69A |
probably benign |
Het |
Dgkz |
A |
G |
2: 91,769,994 (GRCm39) |
S557P |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,055 (GRCm39) |
L602Q |
|
Het |
Gli2 |
A |
T |
1: 118,772,167 (GRCm39) |
Y513N |
probably damaging |
Het |
H2-Q10 |
A |
G |
17: 35,781,983 (GRCm39) |
T202A |
probably benign |
Het |
Hnrnpa3 |
A |
G |
2: 75,492,860 (GRCm39) |
N195D |
probably benign |
Het |
Ifna1 |
C |
T |
4: 88,768,628 (GRCm39) |
T102I |
possibly damaging |
Het |
Igfbp3 |
T |
A |
11: 7,160,152 (GRCm39) |
H167L |
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,895,782 (GRCm39) |
T1595A |
probably benign |
Het |
Krt14 |
A |
G |
11: 100,094,178 (GRCm39) |
V472A |
probably damaging |
Het |
Magoh |
T |
G |
4: 107,738,132 (GRCm39) |
V44G |
possibly damaging |
Het |
Mbnl1 |
A |
T |
3: 60,532,551 (GRCm39) |
I274L |
probably benign |
Het |
Or13a27 |
T |
G |
7: 139,925,411 (GRCm39) |
M164L |
probably benign |
Het |
Or4c108 |
C |
T |
2: 88,804,082 (GRCm39) |
R51H |
probably benign |
Het |
Pdcd1 |
A |
G |
1: 93,967,142 (GRCm39) |
V252A |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Plcxd3 |
A |
G |
15: 4,546,317 (GRCm39) |
D107G |
possibly damaging |
Het |
Polr2m |
T |
A |
9: 71,390,866 (GRCm39) |
D112V |
probably benign |
Het |
Ptprn |
A |
T |
1: 75,229,796 (GRCm39) |
M701K |
probably damaging |
Het |
Rxrb |
A |
G |
17: 34,255,879 (GRCm39) |
D421G |
possibly damaging |
Het |
Slfn4 |
A |
G |
11: 83,078,355 (GRCm39) |
E381G |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,661,341 (GRCm39) |
I530T |
probably damaging |
Het |
Stmn4 |
A |
G |
14: 66,595,341 (GRCm39) |
H122R |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,998,427 (GRCm39) |
E1031G |
probably damaging |
Het |
Tle1 |
T |
C |
4: 72,043,181 (GRCm39) |
T553A |
probably benign |
Het |
Tnik |
T |
A |
3: 28,609,086 (GRCm39) |
W217R |
unknown |
Het |
Tyrp1 |
T |
C |
4: 80,769,190 (GRCm39) |
V161A |
unknown |
Het |
Usp29 |
T |
A |
7: 6,965,406 (GRCm39) |
F416L |
probably benign |
Het |
Usp45 |
T |
C |
4: 21,781,736 (GRCm39) |
V34A |
probably benign |
Het |
Vmn1r119 |
A |
G |
7: 20,745,932 (GRCm39) |
V150A |
probably damaging |
Het |
|
Other mutations in Lrrc74b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01810:Lrrc74b
|
APN |
16 |
17,363,422 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02402:Lrrc74b
|
APN |
16 |
17,376,028 (GRCm39) |
splice site |
probably benign |
|
P0043:Lrrc74b
|
UTSW |
16 |
17,376,023 (GRCm39) |
splice site |
probably benign |
|
R0131:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Lrrc74b
|
UTSW |
16 |
17,371,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R0829:Lrrc74b
|
UTSW |
16 |
17,376,254 (GRCm39) |
splice site |
probably benign |
|
R1463:Lrrc74b
|
UTSW |
16 |
17,377,737 (GRCm39) |
missense |
probably benign |
0.00 |
R1681:Lrrc74b
|
UTSW |
16 |
17,377,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1938:Lrrc74b
|
UTSW |
16 |
17,371,058 (GRCm39) |
missense |
probably benign |
0.41 |
R4790:Lrrc74b
|
UTSW |
16 |
17,367,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Lrrc74b
|
UTSW |
16 |
17,376,125 (GRCm39) |
missense |
probably damaging |
0.99 |
R6198:Lrrc74b
|
UTSW |
16 |
17,366,650 (GRCm39) |
missense |
probably damaging |
0.96 |
R7910:Lrrc74b
|
UTSW |
16 |
17,376,213 (GRCm39) |
nonsense |
probably null |
|
R8957:Lrrc74b
|
UTSW |
16 |
17,378,976 (GRCm39) |
missense |
probably benign |
0.09 |
R9030:Lrrc74b
|
UTSW |
16 |
17,367,640 (GRCm39) |
critical splice donor site |
probably null |
|
X0063:Lrrc74b
|
UTSW |
16 |
17,371,072 (GRCm39) |
missense |
probably benign |
0.05 |
Z1177:Lrrc74b
|
UTSW |
16 |
17,376,036 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Lrrc74b
|
UTSW |
16 |
17,376,032 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTATGCCTGGAACTCATTGAATTC -3'
(R):5'- CAGTATTGCTGCCCTCAGATG -3'
Sequencing Primer
(F):5'- GAACTCATTGAATTCCGTGGC -3'
(R):5'- CTCAGATGTGGACCTGTCAGAGAATC -3'
|
Posted On |
2020-07-13 |