Incidental Mutation 'R6581:Ms4a4d'
ID |
523452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ms4a4d
|
Ensembl Gene |
ENSMUSG00000024678 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 4D |
Synonyms |
|
MMRRC Submission |
044705-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R6581 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
11514165-11535831 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 11532204 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 117
(V117M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025581]
|
AlphaFold |
Q99N05 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025581
AA Change: V117M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025581 Gene: ENSMUSG00000024678 AA Change: V117M
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
43 |
141 |
1.5e-18 |
PFAM |
transmembrane domain
|
146 |
168 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
G |
A |
10: 21,256,741 (GRCm39) |
V51M |
probably damaging |
Het |
Cdh17 |
A |
T |
4: 11,799,615 (GRCm39) |
I471F |
probably damaging |
Het |
Dnajb7 |
T |
A |
15: 81,292,226 (GRCm39) |
E37V |
probably damaging |
Het |
Dpy19l1 |
T |
A |
9: 24,359,160 (GRCm39) |
I337F |
possibly damaging |
Het |
Etv5 |
C |
T |
16: 22,258,449 (GRCm39) |
|
probably benign |
Het |
Gbp2b |
T |
A |
3: 142,313,999 (GRCm39) |
Y426* |
probably null |
Het |
Gm21103 |
A |
T |
14: 17,484,809 (GRCm39) |
N78K |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,871,172 (GRCm39) |
V2755A |
probably damaging |
Het |
Itga9 |
A |
T |
9: 118,487,632 (GRCm39) |
E238D |
probably benign |
Het |
Itgb8 |
A |
T |
12: 119,126,950 (GRCm39) |
C736S |
probably benign |
Het |
Luzp1 |
A |
G |
4: 136,267,942 (GRCm39) |
E55G |
probably damaging |
Het |
Mrtfa |
A |
G |
15: 80,900,574 (GRCm39) |
L589P |
probably damaging |
Het |
Odad2 |
C |
T |
18: 7,129,560 (GRCm39) |
V873I |
possibly damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,013 (GRCm39) |
L14P |
probably damaging |
Het |
Or3a1d |
A |
G |
11: 74,238,032 (GRCm39) |
F126S |
probably damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,428 (GRCm39) |
I59V |
probably benign |
Het |
Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
Slc12a5 |
T |
C |
2: 164,829,035 (GRCm39) |
F525S |
probably damaging |
Het |
Smyd5 |
G |
A |
6: 85,409,005 (GRCm39) |
D7N |
probably damaging |
Het |
Spata18 |
G |
T |
5: 73,826,859 (GRCm39) |
R152L |
probably benign |
Het |
Thbd |
A |
G |
2: 148,248,192 (GRCm39) |
S559P |
probably benign |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Tnpo2 |
C |
A |
8: 85,782,033 (GRCm39) |
P874Q |
probably damaging |
Het |
Uchl4 |
A |
T |
9: 64,143,075 (GRCm39) |
E185D |
possibly damaging |
Het |
Vmn1r158 |
G |
A |
7: 22,489,465 (GRCm39) |
T248I |
possibly damaging |
Het |
Vmn1r5 |
T |
C |
6: 56,962,366 (GRCm39) |
F14L |
probably benign |
Het |
Yaf2 |
T |
C |
15: 93,184,295 (GRCm39) |
T101A |
probably benign |
Het |
|
Other mutations in Ms4a4d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00718:Ms4a4d
|
APN |
19 |
11,535,335 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00951:Ms4a4d
|
APN |
19 |
11,532,285 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02627:Ms4a4d
|
APN |
19 |
11,525,987 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02806:Ms4a4d
|
APN |
19 |
11,533,610 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02868:Ms4a4d
|
APN |
19 |
11,527,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Ms4a4d
|
UTSW |
19 |
11,532,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Ms4a4d
|
UTSW |
19 |
11,535,298 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4932:Ms4a4d
|
UTSW |
19 |
11,535,296 (GRCm39) |
missense |
probably benign |
0.05 |
R5169:Ms4a4d
|
UTSW |
19 |
11,535,340 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5390:Ms4a4d
|
UTSW |
19 |
11,526,004 (GRCm39) |
critical splice donor site |
probably null |
|
R7014:Ms4a4d
|
UTSW |
19 |
11,525,947 (GRCm39) |
missense |
probably benign |
0.17 |
R7429:Ms4a4d
|
UTSW |
19 |
11,535,297 (GRCm39) |
missense |
probably benign |
0.38 |
R7430:Ms4a4d
|
UTSW |
19 |
11,535,297 (GRCm39) |
missense |
probably benign |
0.38 |
R8132:Ms4a4d
|
UTSW |
19 |
11,535,310 (GRCm39) |
missense |
probably benign |
0.02 |
R8872:Ms4a4d
|
UTSW |
19 |
11,530,251 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8927:Ms4a4d
|
UTSW |
19 |
11,533,574 (GRCm39) |
missense |
probably benign |
0.11 |
R8928:Ms4a4d
|
UTSW |
19 |
11,533,574 (GRCm39) |
missense |
probably benign |
0.11 |
R9005:Ms4a4d
|
UTSW |
19 |
11,533,564 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCACCTGGAGGAATAGTCTTAC -3'
(R):5'- TGATCAGAATGTTGACTGTTGC -3'
Sequencing Primer
(F):5'- CCTGGAGGAATAGTCTTACGAATAAC -3'
(R):5'- CTTTTGCAAGAGTCAGTGAGCCC -3'
|
Posted On |
2018-06-22 |