Incidental Mutation 'R3947:C87436'
| ID |
307748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C87436
|
| Ensembl Gene |
ENSMUSG00000046679 |
| Gene Name |
expressed sequence C87436 |
| Synonyms |
|
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86415356-86450482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86423168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 247
(H247Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050497]
[ENSMUST00000113698]
[ENSMUST00000113700]
[ENSMUST00000133753]
[ENSMUST00000141972]
[ENSMUST00000203568]
[ENSMUST00000204137]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050497
AA Change: H247Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: H247Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1.1e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113698
AA Change: H247Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: H247Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
1e-22 |
PFAM |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113700
AA Change: H247Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: H247Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
1.3e-22 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133753
AA Change: H247Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679
AA Change: H247Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141972
AA Change: H247Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679
AA Change: H247Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
15 |
58 |
6.2e-23 |
PFAM |
|
low complexity region
|
288 |
300 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203568
|
| SMART Domains |
Protein: ENSMUSP00000144724
Gene: ENSMUSG00000046679
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-tcix
|
16 |
57 |
3.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204137
|
| Meta Mutation Damage Score |
0.8427 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (32/33) |
| 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 |
| 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 |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
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 C87436 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:C87436
|
APN |
6 |
86,434,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01596:C87436
|
APN |
6 |
86,423,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:C87436
|
APN |
6 |
86,430,677 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02798:C87436
|
APN |
6 |
86,423,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0008:C87436
|
UTSW |
6 |
86,423,265 (GRCm39) |
unclassified |
probably benign |
|
|
R0128:C87436
|
UTSW |
6 |
86,446,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:C87436
|
UTSW |
6 |
86,426,832 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0970:C87436
|
UTSW |
6 |
86,424,310 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1125:C87436
|
UTSW |
6 |
86,424,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1310:C87436
|
UTSW |
6 |
86,422,432 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1640:C87436
|
UTSW |
6 |
86,423,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1764:C87436
|
UTSW |
6 |
86,430,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2213:C87436
|
UTSW |
6 |
86,422,455 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2275:C87436
|
UTSW |
6 |
86,422,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5416:C87436
|
UTSW |
6 |
86,442,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5982:C87436
|
UTSW |
6 |
86,422,957 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6171:C87436
|
UTSW |
6 |
86,422,449 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6744:C87436
|
UTSW |
6 |
86,423,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:C87436
|
UTSW |
6 |
86,439,662 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7253:C87436
|
UTSW |
6 |
86,442,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7876:C87436
|
UTSW |
6 |
86,423,411 (GRCm39) |
splice site |
probably null |
|
|
R8035:C87436
|
UTSW |
6 |
86,424,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:C87436
|
UTSW |
6 |
86,434,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8919:C87436
|
UTSW |
6 |
86,422,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9099:C87436
|
UTSW |
6 |
86,439,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:C87436
|
UTSW |
6 |
86,423,227 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9270:C87436
|
UTSW |
6 |
86,442,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCTGAATGCTCTGCAGG -3'
(R):5'- CTACGGGCTCTTAGAACATCCC -3'
Sequencing Primer
(F):5'- AATGCTCTGCAGGCTGCC -3'
(R):5'- CTTAGAACATCCCAAAGGTGCTGATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation