Incidental Mutation 'R4987:Mfap4'
| ID |
385917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfap4
|
| Ensembl Gene |
ENSMUSG00000042436 |
| Gene Name |
microfibrillar-associated protein 4 |
| Synonyms |
1110007F23Rik |
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61376257-61379536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61376908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 46
(I46V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040522]
[ENSMUST00000064783]
[ENSMUST00000079080]
[ENSMUST00000101085]
[ENSMUST00000108714]
[ENSMUST00000153441]
|
| AlphaFold |
Q9D1H9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040522
AA Change: I46V
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038971
Gene: ENSMUSG00000042436
AA Change: I46V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FBG
|
38 |
280 |
5.6e-119 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064783
AA Change: I46V
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000070848
Gene: ENSMUSG00000042436
AA Change: I46V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FBG
|
38 |
257 |
3.39e-130 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079080
|
| SMART Domains |
Protein: ENSMUSP00000078087
Gene: ENSMUSG00000001034
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
S_TKc
|
55 |
347 |
5.66e-96 |
SMART |
|
low complexity region
|
433 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
492 |
N/A |
INTRINSIC |
|
coiled coil region
|
508 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
675 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
803 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101085
|
| SMART Domains |
Protein: ENSMUSP00000098646
Gene: ENSMUSG00000001034
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
277 |
3.48e-73 |
SMART |
|
low complexity region
|
363 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
688 |
700 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108714
|
| SMART Domains |
Protein: ENSMUSP00000104354
Gene: ENSMUSG00000001034
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
1 |
278 |
1.76e-74 |
SMART |
|
low complexity region
|
364 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
423 |
N/A |
INTRINSIC |
|
coiled coil region
|
439 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
734 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127073
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153441
|
| SMART Domains |
Protein: ENSMUSP00000116084
Gene: ENSMUSG00000001034
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4IC8|B
|
1 |
49 |
2e-26 |
PDB |
|
low complexity region
|
51 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
162 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0937 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous air space enlargement in female mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Or8k33 |
A |
C |
2: 86,383,579 (GRCm39) |
D296E |
probably null |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
| Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
| Other mutations in Mfap4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Mfap4
|
APN |
11 |
61,378,607 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01482:Mfap4
|
APN |
11 |
61,378,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Mfap4
|
UTSW |
11 |
61,378,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Mfap4
|
UTSW |
11 |
61,378,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1991:Mfap4
|
UTSW |
11 |
61,376,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2680:Mfap4
|
UTSW |
11 |
61,378,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4614:Mfap4
|
UTSW |
11 |
61,376,335 (GRCm39) |
unclassified |
probably benign |
|
|
R4616:Mfap4
|
UTSW |
11 |
61,376,335 (GRCm39) |
unclassified |
probably benign |
|
|
R4617:Mfap4
|
UTSW |
11 |
61,376,335 (GRCm39) |
unclassified |
probably benign |
|
|
R4675:Mfap4
|
UTSW |
11 |
61,376,336 (GRCm39) |
unclassified |
probably benign |
|
|
R5381:Mfap4
|
UTSW |
11 |
61,378,756 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6173:Mfap4
|
UTSW |
11 |
61,376,245 (GRCm39) |
splice site |
probably null |
|
|
R7640:Mfap4
|
UTSW |
11 |
61,377,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Mfap4
|
UTSW |
11 |
61,376,545 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9245:Mfap4
|
UTSW |
11 |
61,378,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9558:Mfap4
|
UTSW |
11 |
61,376,965 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9681:Mfap4
|
UTSW |
11 |
61,376,925 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTACAAAGTGGCAGGTATCCCC -3'
(R):5'- GGATCCAGTCCCCATGAAGATG -3'
Sequencing Primer
(F):5'- AAGTGGCAGGTATCCCCCTAGAG -3'
(R):5'- CTTCACAGAGATGACAGCCGG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation