Incidental Mutation 'R5633:Dmtn'
| ID |
439997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmtn
|
| Ensembl Gene |
ENSMUSG00000022099 |
| Gene Name |
dematin actin binding protein |
| Synonyms |
dematin, Epb4.9 |
| MMRRC Submission |
043284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R5633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70839624-70873488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70842419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 365
(M365V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022694]
[ENSMUST00000022695]
[ENSMUST00000110984]
[ENSMUST00000227331]
[ENSMUST00000228001]
[ENSMUST00000228009]
[ENSMUST00000228295]
[ENSMUST00000228824]
|
| AlphaFold |
Q9WV69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022694
AA Change: M365V
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022694
Gene: ENSMUSG00000022099
AA Change: M365V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AbLIM_anchor
|
8 |
93 |
8e-30 |
PFAM |
|
Pfam:AbLIM_anchor
|
79 |
347 |
1.9e-58 |
PFAM |
|
VHP
|
348 |
383 |
1.88e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022695
AA Change: M340V
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022695
Gene: ENSMUSG00000022099
AA Change: M340V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
267 |
N/A |
INTRINSIC |
|
VHP
|
345 |
380 |
1.88e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110984
AA Change: M343V
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000106612
Gene: ENSMUSG00000022099
AA Change: M343V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
113 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
|
coiled coil region
|
213 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
292 |
N/A |
INTRINSIC |
|
VHP
|
348 |
383 |
1.88e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227331
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228001
AA Change: M318V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228009
AA Change: M343V
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228295
AA Change: M340V
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228824
AA Change: M318V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0892 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a targeted mutation display mild anemia and spherocytosis. Mutant erythrocytes are osmotically fragile and show reduced deformability and filterability as well as increased membrane fragmentation and selective loss of spectrin and actin from RBC membrane skeletons and vesicles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
T |
A |
4: 144,344,598 (GRCm39) |
C125S |
probably benign |
Het |
| Abcb8 |
T |
C |
5: 24,608,107 (GRCm39) |
L382P |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,105,724 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,228,015 (GRCm39) |
Q345L |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,134 (GRCm39) |
S1170P |
probably damaging |
Het |
| Ankrd28 |
T |
G |
14: 31,457,022 (GRCm39) |
D182A |
probably damaging |
Het |
| B3galt5 |
A |
T |
16: 96,116,709 (GRCm39) |
H114L |
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,085,740 (GRCm39) |
Y207* |
probably null |
Het |
| Best1 |
A |
G |
19: 9,969,467 (GRCm39) |
L197P |
probably benign |
Het |
| Chil6 |
C |
A |
3: 106,296,068 (GRCm39) |
C389F |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,671,253 (GRCm39) |
T168A |
probably damaging |
Het |
| Ckmt1 |
C |
G |
2: 121,194,110 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,160 (GRCm39) |
L441P |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,010,764 (GRCm39) |
S974T |
probably damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,156,626 (GRCm39) |
D150G |
probably benign |
Het |
| Eef2k |
C |
A |
7: 120,472,513 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
T |
A |
18: 24,748,267 (GRCm39) |
V213E |
probably damaging |
Het |
| Fbxo43 |
A |
T |
15: 36,162,241 (GRCm39) |
|
probably null |
Het |
| Gm11559 |
C |
A |
11: 99,755,412 (GRCm39) |
C20* |
probably null |
Het |
| Gnb2 |
T |
C |
5: 137,527,454 (GRCm39) |
I213V |
probably benign |
Het |
| Gnb5 |
C |
T |
9: 75,251,796 (GRCm39) |
T306I |
probably damaging |
Het |
| Ica1 |
A |
T |
6: 8,667,257 (GRCm39) |
I303N |
possibly damaging |
Het |
| Idh1 |
A |
G |
1: 65,204,295 (GRCm39) |
Y272H |
probably damaging |
Het |
| Ikzf2 |
G |
A |
1: 69,578,256 (GRCm39) |
Q273* |
probably null |
Het |
| Itpkb |
A |
T |
1: 180,154,790 (GRCm39) |
⇒1 |
probably benign |
Het |
| Kntc1 |
C |
T |
5: 123,957,120 (GRCm39) |
T2143I |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,787,943 (GRCm39) |
D464E |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,169,757 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,568,192 (GRCm39) |
F721L |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,775,467 (GRCm39) |
L1026Q |
possibly damaging |
Het |
| Or6c204 |
A |
T |
10: 129,022,718 (GRCm39) |
F191I |
probably benign |
Het |
| P4htm |
A |
C |
9: 108,456,922 (GRCm39) |
D428E |
probably damaging |
Het |
| Parp8 |
C |
T |
13: 117,013,116 (GRCm39) |
R602H |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,646,372 (GRCm39) |
S726R |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Psmd5 |
A |
G |
2: 34,746,500 (GRCm39) |
I359T |
probably benign |
Het |
| Rassf6 |
T |
C |
5: 90,751,977 (GRCm39) |
H292R |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,915 (GRCm39) |
I413T |
probably damaging |
Het |
| Rpn2 |
T |
A |
2: 157,125,516 (GRCm39) |
V9D |
possibly damaging |
Het |
| Rpp30 |
T |
C |
19: 36,064,390 (GRCm39) |
L57P |
probably damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,774,325 (GRCm39) |
H464R |
possibly damaging |
Het |
| Slc47a1 |
G |
T |
11: 61,260,087 (GRCm39) |
P163Q |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,915,443 (GRCm39) |
I165K |
probably damaging |
Het |
| Stra6l |
T |
A |
4: 45,881,455 (GRCm39) |
I439K |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,024,503 (GRCm39) |
T132I |
probably damaging |
Het |
| Timd6 |
C |
T |
11: 46,465,433 (GRCm39) |
S9L |
unknown |
Het |
| Trpm2 |
T |
C |
10: 77,774,187 (GRCm39) |
I471V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,361 (GRCm39) |
M358T |
probably benign |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,870 (GRCm39) |
H263L |
possibly damaging |
Het |
| Zfp407 |
T |
C |
18: 84,579,169 (GRCm39) |
D648G |
probably benign |
Het |
| Zpbp2 |
T |
C |
11: 98,445,584 (GRCm39) |
I150T |
probably damaging |
Het |
|
| Other mutations in Dmtn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Dmtn
|
APN |
14 |
70,842,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02836:Dmtn
|
APN |
14 |
70,853,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Dmtn
|
UTSW |
14 |
70,850,098 (GRCm39) |
splice site |
probably benign |
|
|
R2428:Dmtn
|
UTSW |
14 |
70,850,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Dmtn
|
UTSW |
14 |
70,850,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4851:Dmtn
|
UTSW |
14 |
70,842,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Dmtn
|
UTSW |
14 |
70,843,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4924:Dmtn
|
UTSW |
14 |
70,855,399 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6170:Dmtn
|
UTSW |
14 |
70,854,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Dmtn
|
UTSW |
14 |
70,850,776 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6215:Dmtn
|
UTSW |
14 |
70,850,776 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6639:Dmtn
|
UTSW |
14 |
70,854,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Dmtn
|
UTSW |
14 |
70,852,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7139:Dmtn
|
UTSW |
14 |
70,854,867 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7242:Dmtn
|
UTSW |
14 |
70,855,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Dmtn
|
UTSW |
14 |
70,854,768 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7572:Dmtn
|
UTSW |
14 |
70,842,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8806:Dmtn
|
UTSW |
14 |
70,852,388 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8888:Dmtn
|
UTSW |
14 |
70,850,144 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8895:Dmtn
|
UTSW |
14 |
70,850,144 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9027:Dmtn
|
UTSW |
14 |
70,853,555 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9032:Dmtn
|
UTSW |
14 |
70,853,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9085:Dmtn
|
UTSW |
14 |
70,853,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9694:Dmtn
|
UTSW |
14 |
70,852,732 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGGAAGCTTTCTTCTTAAGTTCG -3'
(R):5'- AGATGGCATGAACCCCAGTG -3'
Sequencing Primer
(F):5'- AGCTTGCCAAACTCCTCGG -3'
(R):5'- ATGAACCCCAGTGGCCTCTG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation