Incidental Mutation 'R5613:Mapt'
| ID |
438095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapt
|
| Ensembl Gene |
ENSMUSG00000018411 |
| Gene Name |
microtubule-associated protein tau |
| Synonyms |
Tau, Mtapt |
| MMRRC Submission |
043274-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
104122216-104222916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104193216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 66
(N66D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100347]
[ENSMUST00000106988]
[ENSMUST00000106989]
[ENSMUST00000106992]
[ENSMUST00000106993]
[ENSMUST00000132977]
[ENSMUST00000145227]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100347
AA Change: N124D
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411
AA Change: N124D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
127 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
212 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
232 |
263 |
1.4e-18 |
PFAM |
|
Pfam:Tubulin-binding
|
264 |
294 |
3.3e-21 |
PFAM |
|
Pfam:Tubulin-binding
|
295 |
325 |
1.6e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
326 |
357 |
1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106988
AA Change: N361D
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: N361D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
188 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
466 |
515 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
535 |
566 |
3.5e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
567 |
597 |
8.6e-22 |
PFAM |
|
Pfam:Tubulin-binding
|
598 |
628 |
4e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
629 |
660 |
2.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106989
AA Change: N377D
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: N377D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
218 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
531 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
552 |
582 |
1.7e-13 |
PFAM |
|
Pfam:Tubulin-binding
|
583 |
613 |
6.8e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
614 |
644 |
2.3e-17 |
PFAM |
|
Pfam:Tubulin-binding
|
645 |
676 |
3.1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106992
AA Change: N66D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411
AA Change: N66D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
154 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
174 |
205 |
6.1e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
206 |
236 |
1.5e-21 |
PFAM |
|
Pfam:Tubulin-binding
|
237 |
267 |
6.9e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
268 |
299 |
4.7e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106993
AA Change: N66D
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000102606
Gene: ENSMUSG00000018411
AA Change: N66D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
119 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
172 |
N/A |
INTRINSIC |
|
Pfam:Tubulin-binding
|
192 |
223 |
4.6e-19 |
PFAM |
|
Pfam:Tubulin-binding
|
224 |
254 |
1.1e-21 |
PFAM |
|
Pfam:Tubulin-binding
|
255 |
285 |
5.3e-20 |
PFAM |
|
Pfam:Tubulin-binding
|
286 |
317 |
3.5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132977
AA Change: N73D
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123260
Gene: ENSMUSG00000018411
AA Change: N73D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
121 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145227
AA Change: N66D
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146353
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430097D07Rik |
T |
C |
2: 32,465,346 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
C |
13: 70,878,253 (GRCm39) |
S1171A |
probably benign |
Het |
| Agtr1b |
T |
C |
3: 20,370,424 (GRCm39) |
T61A |
probably damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,590,334 (GRCm39) |
D257G |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,997 (GRCm39) |
T583A |
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,787,559 (GRCm39) |
N423S |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,051,228 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Chd4 |
A |
C |
6: 125,097,509 (GRCm39) |
E1359D |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,566,196 (GRCm39) |
C264R |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,814,770 (GRCm39) |
D2171G |
probably damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,272,799 (GRCm39) |
L138Q |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,424,360 (GRCm39) |
T380A |
probably benign |
Het |
| Dnm2 |
T |
A |
9: 21,383,963 (GRCm39) |
I248N |
probably damaging |
Het |
| Dtx4 |
A |
T |
19: 12,462,767 (GRCm39) |
S337R |
probably damaging |
Het |
| Dus3l |
T |
C |
17: 57,074,882 (GRCm39) |
S335P |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,599,254 (GRCm39) |
Y1870H |
possibly damaging |
Het |
| Eral1 |
G |
A |
11: 77,965,230 (GRCm39) |
|
probably benign |
Het |
| Eya1 |
G |
T |
1: 14,373,153 (GRCm39) |
|
probably benign |
Het |
| Fbxw28 |
T |
A |
9: 109,167,601 (GRCm39) |
Y52F |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,842,303 (GRCm39) |
|
probably benign |
Het |
| Gm5600 |
A |
G |
7: 113,307,293 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5901 |
A |
G |
7: 105,026,532 (GRCm39) |
Y100C |
probably damaging |
Het |
| Haus3 |
A |
G |
5: 34,325,173 (GRCm39) |
L162P |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,015,239 (GRCm39) |
I1802T |
probably damaging |
Het |
| Klf7 |
G |
A |
1: 64,081,555 (GRCm39) |
R258C |
probably damaging |
Het |
| Mypop |
G |
A |
7: 18,725,901 (GRCm39) |
|
probably benign |
Het |
| Nefm |
T |
A |
14: 68,358,583 (GRCm39) |
K484* |
probably null |
Het |
| Nup153 |
A |
C |
13: 46,840,747 (GRCm39) |
S954A |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,528 (GRCm39) |
C73Y |
probably damaging |
Het |
| Or4a78 |
T |
C |
2: 89,497,388 (GRCm39) |
N281D |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,404,390 (GRCm39) |
A543T |
probably benign |
Het |
| Ppp1r11 |
C |
A |
17: 37,262,380 (GRCm39) |
G7W |
probably damaging |
Het |
| Prss52 |
A |
T |
14: 64,346,951 (GRCm39) |
N42Y |
possibly damaging |
Het |
| Ptger2 |
T |
G |
14: 45,226,960 (GRCm39) |
V180G |
possibly damaging |
Het |
| Rep15 |
G |
T |
6: 146,934,352 (GRCm39) |
V64F |
possibly damaging |
Het |
| Rfpl4b |
T |
A |
10: 38,697,373 (GRCm39) |
Q76L |
probably benign |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc16a12 |
T |
C |
19: 34,652,358 (GRCm39) |
M263V |
probably benign |
Het |
| Spdye4c |
A |
T |
2: 128,434,889 (GRCm39) |
Q95L |
possibly damaging |
Het |
| Srfbp1 |
G |
A |
18: 52,616,717 (GRCm39) |
D81N |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,431,978 (GRCm39) |
V731M |
possibly damaging |
Het |
| Susd6 |
G |
T |
12: 80,915,308 (GRCm39) |
G98C |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,122 (GRCm39) |
S638R |
possibly damaging |
Het |
| Tnfsf13 |
G |
T |
11: 69,574,821 (GRCm39) |
|
probably null |
Het |
| Tnfsf18 |
A |
G |
1: 161,331,297 (GRCm39) |
N149S |
possibly damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,909,499 (GRCm39) |
K176E |
probably damaging |
Het |
| Trav10 |
A |
T |
14: 53,743,483 (GRCm39) |
H28L |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,079,389 (GRCm39) |
K155N |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,858,159 (GRCm39) |
D333G |
probably damaging |
Het |
| Tssk1 |
T |
C |
16: 17,712,364 (GRCm39) |
S50P |
probably benign |
Het |
| Ttll9 |
CAAA |
CAA |
2: 152,815,521 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,739,996 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,507,935 (GRCm39) |
D396V |
probably damaging |
Het |
| Zbtb47 |
T |
A |
9: 121,596,585 (GRCm39) |
I647N |
probably damaging |
Het |
| Zfp799 |
T |
C |
17: 33,038,964 (GRCm39) |
Y433C |
probably damaging |
Het |
|
| Other mutations in Mapt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Mapt
|
APN |
11 |
104,213,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00473:Mapt
|
APN |
11 |
104,178,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01599:Mapt
|
APN |
11 |
104,185,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Mapt
|
APN |
11 |
104,180,828 (GRCm39) |
intron |
probably benign |
|
|
IGL02315:Mapt
|
APN |
11 |
104,218,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03369:Mapt
|
APN |
11 |
104,173,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Mapt
|
UTSW |
11 |
104,196,224 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0040:Mapt
|
UTSW |
11 |
104,196,224 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1913:Mapt
|
UTSW |
11 |
104,218,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Mapt
|
UTSW |
11 |
104,189,325 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3423:Mapt
|
UTSW |
11 |
104,189,548 (GRCm39) |
nonsense |
probably null |
|
|
R3425:Mapt
|
UTSW |
11 |
104,189,548 (GRCm39) |
nonsense |
probably null |
|
|
R3831:Mapt
|
UTSW |
11 |
104,177,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3833:Mapt
|
UTSW |
11 |
104,177,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4095:Mapt
|
UTSW |
11 |
104,201,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4814:Mapt
|
UTSW |
11 |
104,189,786 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4890:Mapt
|
UTSW |
11 |
104,218,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Mapt
|
UTSW |
11 |
104,189,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6956:Mapt
|
UTSW |
11 |
104,209,081 (GRCm39) |
splice site |
probably null |
|
|
R7395:Mapt
|
UTSW |
11 |
104,218,949 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7406:Mapt
|
UTSW |
11 |
104,213,350 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7547:Mapt
|
UTSW |
11 |
104,213,138 (GRCm39) |
splice site |
probably null |
|
|
R7554:Mapt
|
UTSW |
11 |
104,189,528 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7555:Mapt
|
UTSW |
11 |
104,189,528 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7556:Mapt
|
UTSW |
11 |
104,189,528 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8285:Mapt
|
UTSW |
11 |
104,189,628 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8694:Mapt
|
UTSW |
11 |
104,189,440 (GRCm39) |
missense |
probably benign |
|
|
R8841:Mapt
|
UTSW |
11 |
104,201,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8942:Mapt
|
UTSW |
11 |
104,173,307 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9241:Mapt
|
UTSW |
11 |
104,189,797 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9396:Mapt
|
UTSW |
11 |
104,189,555 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGTGTGCTGTGTGATACTAATG -3'
(R):5'- ACTGAGTACAGCTGACCACC -3'
Sequencing Primer
(F):5'- GATGTGAGACCTCGAACATTTG -3'
(R):5'- CTTCCCTGTGTCAAATATCAAGACAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation