Incidental Mutation 'IGL02409:Ms4a7'
ID |
292220 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ms4a7
|
Ensembl Gene |
ENSMUSG00000024672 |
Gene Name |
membrane-spanning 4-domains, subfamily A, member 7 |
Synonyms |
9130422I10Rik, CD20l4, A430103C15Rik, CFFMA |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.049)
|
Stock # |
IGL02409
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
11298403-11313510 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 11301807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 62
(Y62*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124911
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025574]
[ENSMUST00000056035]
[ENSMUST00000067532]
[ENSMUST00000159269]
|
AlphaFold |
E9Q9V5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025574
AA Change: Y205*
|
SMART Domains |
Protein: ENSMUSP00000025574 Gene: ENSMUSG00000024672 AA Change: Y205*
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
80 |
237 |
4.6e-36 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000056035
AA Change: Y153*
|
SMART Domains |
Protein: ENSMUSP00000054830 Gene: ENSMUSG00000024672 AA Change: Y153*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
53 |
72 |
N/A |
INTRINSIC |
Pfam:CD20
|
92 |
185 |
3.2e-14 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000067532
AA Change: Y172*
|
SMART Domains |
Protein: ENSMUSP00000064534 Gene: ENSMUSG00000024672 AA Change: Y172*
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
47 |
204 |
4.9e-32 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159269
AA Change: Y62*
|
SMART Domains |
Protein: ENSMUSP00000124911 Gene: ENSMUSG00000024672 AA Change: Y62*
Domain | Start | End | E-Value | Type |
Pfam:CD20
|
1 |
100 |
1.4e-14 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162785
|
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 member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp4 |
T |
A |
18: 15,532,782 (GRCm39) |
M104L |
probably benign |
Het |
Cdkn1a |
T |
C |
17: 29,317,428 (GRCm39) |
V16A |
probably benign |
Het |
Celsr2 |
C |
A |
3: 108,321,271 (GRCm39) |
V514F |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,875 (GRCm39) |
N120I |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,226,706 (GRCm39) |
N2794S |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,837,793 (GRCm39) |
T281A |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,451,204 (GRCm39) |
N840K |
probably benign |
Het |
Dscam |
T |
C |
16: 96,621,088 (GRCm39) |
N540S |
possibly damaging |
Het |
Elavl1 |
A |
T |
8: 4,339,838 (GRCm39) |
I248N |
possibly damaging |
Het |
Fam120a |
A |
G |
13: 49,120,835 (GRCm39) |
V157A |
probably benign |
Het |
Fcrl2 |
G |
A |
3: 87,160,030 (GRCm39) |
P408L |
probably benign |
Het |
Grin2b |
T |
A |
6: 136,020,906 (GRCm39) |
M132L |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,870,217 (GRCm39) |
|
probably null |
Het |
Lrp1b |
T |
G |
2: 41,335,208 (GRCm39) |
K778T |
possibly damaging |
Het |
Mapk10 |
T |
A |
5: 103,076,096 (GRCm39) |
E389D |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,415,075 (GRCm39) |
T2674A |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,368,494 (GRCm39) |
L2613P |
probably benign |
Het |
Ncapg2 |
A |
T |
12: 116,384,337 (GRCm39) |
Y266F |
probably damaging |
Het |
Or10a3m |
A |
G |
7: 108,313,366 (GRCm39) |
I269V |
probably benign |
Het |
Or14j6 |
T |
C |
17: 38,214,679 (GRCm39) |
Y81H |
probably damaging |
Het |
Or1j14 |
T |
A |
2: 36,418,165 (GRCm39) |
V247E |
probably damaging |
Het |
Or4c110 |
C |
T |
2: 88,832,254 (GRCm39) |
C126Y |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,792,597 (GRCm39) |
I1428N |
probably benign |
Het |
Ppil4 |
T |
C |
10: 7,674,328 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
C |
10: 39,697,144 (GRCm39) |
V547A |
possibly damaging |
Het |
Rgsl1 |
T |
C |
1: 153,701,989 (GRCm39) |
K155R |
possibly damaging |
Het |
Skap2 |
T |
C |
6: 51,884,938 (GRCm39) |
D234G |
possibly damaging |
Het |
Sult2a4 |
C |
T |
7: 13,718,844 (GRCm39) |
W133* |
probably null |
Het |
Tbc1d2b |
C |
T |
9: 90,104,405 (GRCm39) |
S579N |
probably benign |
Het |
Tdrkh |
T |
A |
3: 94,337,919 (GRCm39) |
|
probably benign |
Het |
Thumpd2 |
A |
T |
17: 81,340,117 (GRCm39) |
F377L |
probably damaging |
Het |
Tmem132d |
T |
C |
5: 127,861,952 (GRCm39) |
D723G |
probably damaging |
Het |
Tnfrsf23 |
A |
T |
7: 143,222,308 (GRCm39) |
L168Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,784,974 (GRCm39) |
T818A |
unknown |
Het |
Uox |
A |
T |
3: 146,330,381 (GRCm39) |
D130V |
probably benign |
Het |
Vmn2r45 |
T |
C |
7: 8,488,727 (GRCm39) |
Y101C |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,688,453 (GRCm39) |
D161N |
probably benign |
Het |
|
Other mutations in Ms4a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Ms4a7
|
APN |
19 |
11,299,724 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01845:Ms4a7
|
APN |
19 |
11,299,751 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1851:Ms4a7
|
UTSW |
19 |
11,301,788 (GRCm39) |
missense |
probably benign |
0.08 |
R5426:Ms4a7
|
UTSW |
19 |
11,303,166 (GRCm39) |
splice site |
probably null |
|
R5468:Ms4a7
|
UTSW |
19 |
11,299,778 (GRCm39) |
missense |
probably benign |
0.39 |
R6267:Ms4a7
|
UTSW |
19 |
11,310,659 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6756:Ms4a7
|
UTSW |
19 |
11,301,889 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6990:Ms4a7
|
UTSW |
19 |
11,310,605 (GRCm39) |
missense |
probably damaging |
0.99 |
R7260:Ms4a7
|
UTSW |
19 |
11,299,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R7272:Ms4a7
|
UTSW |
19 |
11,310,642 (GRCm39) |
nonsense |
probably null |
|
R7397:Ms4a7
|
UTSW |
19 |
11,298,916 (GRCm39) |
missense |
probably benign |
0.16 |
R7678:Ms4a7
|
UTSW |
19 |
11,301,868 (GRCm39) |
missense |
probably benign |
0.03 |
|
Posted On |
2015-04-16 |