Incidental Mutation 'R4131:Cisd3'
| ID |
314685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cisd3
|
| Ensembl Gene |
ENSMUSG00000078695 |
| Gene Name |
CDGSH iron sulfur domain 3 |
| Synonyms |
Mel13 |
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97576652-97579447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97579257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018681]
[ENSMUST00000044730]
[ENSMUST00000103148]
[ENSMUST00000103149]
[ENSMUST00000107583]
[ENSMUST00000107584]
[ENSMUST00000107585]
[ENSMUST00000107586]
[ENSMUST00000179765]
[ENSMUST00000169807]
|
| AlphaFold |
B1AR13 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018681
|
| SMART Domains |
Protein: ENSMUSP00000018681
Gene: ENSMUSG00000018537
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.99e-5 |
SMART |
|
low complexity region
|
263 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044730
|
| SMART Domains |
Protein: ENSMUSP00000045445
Gene: ENSMUSG00000038437
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
55 |
5.92e-7 |
SMART |
|
PHD
|
119 |
178 |
5e-5 |
SMART |
|
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
666 |
N/A |
INTRINSIC |
|
coiled coil region
|
703 |
744 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
756 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
848 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
901 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
942 |
N/A |
INTRINSIC |
|
low complexity region
|
995 |
1018 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1037 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103148
|
| SMART Domains |
Protein: ENSMUSP00000099437
Gene: ENSMUSG00000018537
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.99e-5 |
SMART |
|
low complexity region
|
263 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103149
|
| SMART Domains |
Protein: ENSMUSP00000099438
Gene: ENSMUSG00000018537
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
134 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107583
AA Change: V133A
PolyPhen 2
Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103209
Gene: ENSMUSG00000078695
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_CDGSH
|
54 |
88 |
3.39e-9 |
SMART |
|
ZnF_CDGSH
|
92 |
129 |
5.55e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107584
AA Change: V111A
PolyPhen 2
Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103210
Gene: ENSMUSG00000078695
AA Change: V111A
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_CDGSH
|
32 |
66 |
3.39e-9 |
SMART |
|
ZnF_CDGSH
|
70 |
107 |
5.55e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107585
AA Change: V130A
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103211
Gene: ENSMUSG00000078695
AA Change: V130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
29 |
N/A |
INTRINSIC |
|
ZnF_CDGSH
|
51 |
85 |
3.39e-9 |
SMART |
|
ZnF_CDGSH
|
89 |
126 |
5.55e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145623
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107586
|
| SMART Domains |
Protein: ENSMUSP00000103212
Gene: ENSMUSG00000038437
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
7 |
55 |
5.92e-7 |
SMART |
|
PHD
|
119 |
178 |
5e-5 |
SMART |
|
low complexity region
|
190 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
290 |
330 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
388 |
410 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
546 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
631 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
696 |
N/A |
INTRINSIC |
|
coiled coil region
|
733 |
774 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
786 |
N/A |
INTRINSIC |
|
low complexity region
|
803 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
878 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
931 |
N/A |
INTRINSIC |
|
coiled coil region
|
945 |
972 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1048 |
N/A |
INTRINSIC |
|
low complexity region
|
1056 |
1067 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179765
|
| SMART Domains |
Protein: ENSMUSP00000137517
Gene: ENSMUSG00000018537
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.99e-5 |
SMART |
|
low complexity region
|
263 |
318 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169807
|
| SMART Domains |
Protein: ENSMUSP00000126967
Gene: ENSMUSG00000018537
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.99e-5 |
SMART |
|
Pfam:RAWUL
|
146 |
228 |
1.9e-26 |
PFAM |
|
low complexity region
|
263 |
318 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
probably benign |
Het |
|
| Other mutations in Cisd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R4395:Cisd3
|
UTSW |
11 |
97,579,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Cisd3
|
UTSW |
11 |
97,576,986 (GRCm39) |
splice site |
probably null |
|
|
R7176:Cisd3
|
UTSW |
11 |
97,576,959 (GRCm39) |
missense |
probably benign |
|
|
R8063:Cisd3
|
UTSW |
11 |
97,576,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8560:Cisd3
|
UTSW |
11 |
97,576,689 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8826:Cisd3
|
UTSW |
11 |
97,579,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8852:Cisd3
|
UTSW |
11 |
97,576,703 (GRCm39) |
missense |
probably benign |
|
|
R8860:Cisd3
|
UTSW |
11 |
97,576,703 (GRCm39) |
missense |
probably benign |
|
|
R9176:Cisd3
|
UTSW |
11 |
97,579,127 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAACGAGAATGCTCCACTCC -3'
(R):5'- GCAGGCCTCAGTGTTTATTG -3'
Sequencing Primer
(F):5'- GAGAATGCTCCACTCCCCACC -3'
(R):5'- ATTGACAGCTTTACCGGATGC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation