Incidental Mutation 'R7954:Epb41l4b'
| ID |
649708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Epb41l4b
|
| Ensembl Gene |
ENSMUSG00000028434 |
| Gene Name |
erythrocyte membrane protein band 4.1 like 4b |
| Synonyms |
Ehm2, 6430543G08Rik, Epb4.1l4b, Lulu2, D4Ertd346e |
| MMRRC Submission |
045998-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
56991972-57143437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57088034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 162
(V162A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030142]
[ENSMUST00000095076]
|
| AlphaFold |
Q9JMC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030142
AA Change: V162A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030142
Gene: ENSMUSG00000028434
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095076
AA Change: V162A
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092687
Gene: ENSMUSG00000028434
AA Change: V162A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
B41
|
81 |
277 |
4.09e-69 |
SMART |
|
FERM_C
|
281 |
373 |
1.76e-35 |
SMART |
|
FA
|
378 |
422 |
2.86e-12 |
SMART |
|
low complexity region
|
504 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
704 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 119,903,169 (GRCm39) |
C409Y |
possibly damaging |
Het |
| Acsm2 |
C |
T |
7: 119,179,952 (GRCm39) |
T390I |
probably damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,581 (GRCm39) |
Y564H |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,494,773 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,598,144 (GRCm39) |
V990A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,164,712 (GRCm39) |
V318E |
probably damaging |
Het |
| Ano6 |
G |
T |
15: 95,863,702 (GRCm39) |
A741S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,447,321 (GRCm39) |
S1406G |
probably damaging |
Het |
| Cemip2 |
T |
A |
19: 21,770,264 (GRCm39) |
I84N |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,662,234 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
A |
T |
6: 42,263,625 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Dnmbp |
A |
T |
19: 43,890,742 (GRCm39) |
W342R |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,674,993 (GRCm39) |
|
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,006 (GRCm39) |
I284T |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,816,599 (GRCm39) |
T2767A |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,909,708 (GRCm39) |
I2098T |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,748,767 (GRCm39) |
N384S |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 78,008,826 (GRCm39) |
L78P |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,476,854 (GRCm39) |
R525H |
possibly damaging |
Het |
| Gpr15 |
T |
G |
16: 58,539,047 (GRCm39) |
D14A |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,807,920 (GRCm39) |
I189T |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,067,283 (GRCm39) |
I376V |
probably benign |
Het |
| Hs6st3 |
T |
C |
14: 120,106,522 (GRCm39) |
V310A |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,696,944 (GRCm39) |
I531F |
probably damaging |
Het |
| Krtcap3 |
T |
C |
5: 31,410,015 (GRCm39) |
L166P |
probably damaging |
Het |
| Lmod1 |
A |
C |
1: 135,252,794 (GRCm39) |
D16A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,333,867 (GRCm39) |
N1458T |
possibly damaging |
Het |
| Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
| Nop14 |
G |
A |
5: 34,807,729 (GRCm39) |
P411L |
probably benign |
Het |
| Nr2f1 |
A |
C |
13: 78,338,113 (GRCm39) |
D334E |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,212 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,119 (GRCm39) |
N274D |
probably benign |
Het |
| Paqr9 |
G |
A |
9: 95,442,681 (GRCm39) |
V224M |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,651 (GRCm39) |
T464A |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,543 (GRCm39) |
R188G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,977,454 (GRCm39) |
R1150* |
probably null |
Het |
| Rgs22 |
A |
C |
15: 36,082,148 (GRCm39) |
F653V |
possibly damaging |
Het |
| Spata2 |
T |
C |
2: 167,325,857 (GRCm39) |
T321A |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,984,422 (GRCm39) |
F118I |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,849 (GRCm39) |
S921N |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,169,481 (GRCm39) |
|
probably null |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,571,568 (GRCm39) |
T171I |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,205,361 (GRCm39) |
Q652L |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,981 (GRCm39) |
L945P |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,234,960 (GRCm39) |
H1263R |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,871 (GRCm39) |
M182K |
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,227 (GRCm39) |
C279* |
probably null |
Het |
|
| Other mutations in Epb41l4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Epb41l4b
|
APN |
4 |
57,103,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02311:Epb41l4b
|
APN |
4 |
57,076,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Episode
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0456:Epb41l4b
|
UTSW |
4 |
57,142,843 (GRCm39) |
splice site |
probably null |
|
|
R0799:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0905:Epb41l4b
|
UTSW |
4 |
57,103,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1208:Epb41l4b
|
UTSW |
4 |
57,077,252 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1506:Epb41l4b
|
UTSW |
4 |
57,088,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Epb41l4b
|
UTSW |
4 |
57,032,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Epb41l4b
|
UTSW |
4 |
57,040,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1956:Epb41l4b
|
UTSW |
4 |
57,038,553 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2041:Epb41l4b
|
UTSW |
4 |
57,084,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2048:Epb41l4b
|
UTSW |
4 |
57,142,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3434:Epb41l4b
|
UTSW |
4 |
57,040,865 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4059:Epb41l4b
|
UTSW |
4 |
57,024,337 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4175:Epb41l4b
|
UTSW |
4 |
57,076,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Epb41l4b
|
UTSW |
4 |
57,019,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4817:Epb41l4b
|
UTSW |
4 |
57,103,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Epb41l4b
|
UTSW |
4 |
57,040,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5179:Epb41l4b
|
UTSW |
4 |
57,063,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5246:Epb41l4b
|
UTSW |
4 |
57,040,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5530:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Epb41l4b
|
UTSW |
4 |
57,064,802 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5784:Epb41l4b
|
UTSW |
4 |
57,086,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6772:Epb41l4b
|
UTSW |
4 |
57,063,140 (GRCm39) |
missense |
probably benign |
|
|
R6965:Epb41l4b
|
UTSW |
4 |
57,040,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7045:Epb41l4b
|
UTSW |
4 |
57,103,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7316:Epb41l4b
|
UTSW |
4 |
57,019,867 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7750:Epb41l4b
|
UTSW |
4 |
57,076,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9032:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9085:Epb41l4b
|
UTSW |
4 |
57,041,064 (GRCm39) |
splice site |
probably null |
|
|
R9130:Epb41l4b
|
UTSW |
4 |
57,103,447 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9386:Epb41l4b
|
UTSW |
4 |
57,076,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Epb41l4b
|
UTSW |
4 |
57,063,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGAGAAAGTGCTAGTAAC -3'
(R):5'- TGCCAGTTTGGAGTAATCCCG -3'
Sequencing Primer
(F):5'- CCCAGAGAAAGTGCTAGTAACTTCTG -3'
(R):5'- GAACGCCAGCTGTTTGTAAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation