Incidental Mutation 'R3947:Disc1'
| ID |
307755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Disc1
|
| Ensembl Gene |
ENSMUSG00000043051 |
| Gene Name |
disrupted in schizophrenia 1 |
| Synonyms |
|
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
181 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
125780934-125988597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125814874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 246
(E246G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074562]
[ENSMUST00000075730]
[ENSMUST00000098311]
[ENSMUST00000115885]
[ENSMUST00000117658]
[ENSMUST00000118942]
[ENSMUST00000121953]
[ENSMUST00000122389]
|
| AlphaFold |
Q811T9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074562
AA Change: E246G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075730
AA Change: E246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098311
AA Change: E246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115885
AA Change: E246G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117658
AA Change: E246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118942
AA Change: E246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
coiled coil region
|
372 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
449 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
624 |
636 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121953
AA Change: E244G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: E244G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
218 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
322 |
N/A |
INTRINSIC |
|
coiled coil region
|
370 |
395 |
N/A |
INTRINSIC |
|
coiled coil region
|
447 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126111
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122389
AA Change: E246G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000112593
Gene: ENSMUSG00000043051
AA Change: E246G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
220 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
324 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1079 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show altered anxiety, synaptic depression, LTP, impulsivity, social investigation, hyperactivity and prepulse inhibition. Homozygotes for a spontaneous allele show altered working memory. Different ENU mutations cause distinct depression and schizophrenia-like profiles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
| Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,228 (GRCm39) |
A481D |
possibly damaging |
Het |
| Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
| Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
| Mtnr1a |
T |
C |
8: 45,540,557 (GRCm39) |
Y173H |
probably damaging |
Het |
| Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
| Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
| Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,801,768 (GRCm39) |
I92T |
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Suclg2 |
G |
T |
6: 95,556,219 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
| Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
| Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
probably damaging |
Het |
|
| Other mutations in Disc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Disc1
|
APN |
8 |
125,815,014 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01319:Disc1
|
APN |
8 |
125,814,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02001:Disc1
|
APN |
8 |
125,977,781 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02403:Disc1
|
APN |
8 |
125,862,258 (GRCm39) |
splice site |
probably benign |
|
|
IGL02445:Disc1
|
APN |
8 |
125,875,142 (GRCm39) |
splice site |
probably benign |
|
|
R0334:Disc1
|
UTSW |
8 |
125,987,836 (GRCm39) |
splice site |
probably null |
|
|
R0992:Disc1
|
UTSW |
8 |
125,814,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Disc1
|
UTSW |
8 |
125,875,204 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1711:Disc1
|
UTSW |
8 |
125,851,349 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3154:Disc1
|
UTSW |
8 |
125,862,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3948:Disc1
|
UTSW |
8 |
125,814,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3949:Disc1
|
UTSW |
8 |
125,814,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4051:Disc1
|
UTSW |
8 |
125,875,164 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4199:Disc1
|
UTSW |
8 |
125,875,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4691:Disc1
|
UTSW |
8 |
125,875,186 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4763:Disc1
|
UTSW |
8 |
125,851,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Disc1
|
UTSW |
8 |
125,862,041 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4969:Disc1
|
UTSW |
8 |
125,851,289 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Disc1
|
UTSW |
8 |
125,858,899 (GRCm39) |
missense |
probably benign |
|
|
R5383:Disc1
|
UTSW |
8 |
125,862,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Disc1
|
UTSW |
8 |
125,862,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5828:Disc1
|
UTSW |
8 |
125,977,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6431:Disc1
|
UTSW |
8 |
125,862,128 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6501:Disc1
|
UTSW |
8 |
125,944,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6794:Disc1
|
UTSW |
8 |
125,814,514 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7058:Disc1
|
UTSW |
8 |
125,977,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Disc1
|
UTSW |
8 |
125,891,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Disc1
|
UTSW |
8 |
125,881,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Disc1
|
UTSW |
8 |
125,977,714 (GRCm39) |
nonsense |
probably null |
|
|
R7757:Disc1
|
UTSW |
8 |
125,814,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8113:Disc1
|
UTSW |
8 |
125,815,014 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8179:Disc1
|
UTSW |
8 |
125,814,316 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8400:Disc1
|
UTSW |
8 |
125,959,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8459:Disc1
|
UTSW |
8 |
125,891,894 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8492:Disc1
|
UTSW |
8 |
125,817,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Disc1
|
UTSW |
8 |
125,881,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8857:Disc1
|
UTSW |
8 |
125,891,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Disc1
|
UTSW |
8 |
125,977,781 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8936:Disc1
|
UTSW |
8 |
125,814,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9365:Disc1
|
UTSW |
8 |
125,851,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9599:Disc1
|
UTSW |
8 |
125,814,261 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9728:Disc1
|
UTSW |
8 |
125,959,795 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGATGCACCCTGGAACAAG -3'
(R):5'- TGCATCCTGGGAAGAGAAGC -3'
Sequencing Primer
(F):5'- CCTGAAGACTGTGAAACCTCTGG -3'
(R):5'- CCTGGGAAGAGAAGCCAGTGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation