Incidental Mutation 'R3947:Iqsec3'
| ID |
307750 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Iqsec3
|
| Ensembl Gene |
ENSMUSG00000040797 |
| Gene Name |
IQ motif and Sec7 domain 3 |
| Synonyms |
BRAG3, synarfGEF |
| MMRRC Submission |
040927-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
121349892-121450637 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 121364783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 835
(Y835*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046373]
[ENSMUST00000129815]
[ENSMUST00000152103]
|
| AlphaFold |
Q3TES0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046373
AA Change: Y835*
|
| SMART Domains |
Protein: ENSMUSP00000038653
Gene: ENSMUSG00000040797
AA Change: Y835*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
285 |
354 |
5e-16 |
BLAST |
|
low complexity region
|
367 |
386 |
N/A |
INTRINSIC |
|
Blast:Sec7
|
476 |
507 |
2e-9 |
BLAST |
|
low complexity region
|
508 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
598 |
628 |
N/A |
INTRINSIC |
|
Sec7
|
652 |
843 |
9.53e-89 |
SMART |
|
PH
|
874 |
985 |
4.03e0 |
SMART |
|
low complexity region
|
1065 |
1105 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1144 |
N/A |
INTRINSIC |
|
low complexity region
|
1160 |
1178 |
N/A |
INTRINSIC |
|
low complexity region
|
1182 |
1194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129815
|
| SMART Domains |
Protein: ENSMUSP00000120847
Gene: ENSMUSG00000040797
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152103
|
| SMART Domains |
Protein: ENSMUSP00000116317
Gene: ENSMUSG00000040797
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
95 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| 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 |
| 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 |
| 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 |
| 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 Iqsec3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Iqsec3
|
APN |
6 |
121,450,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01615:Iqsec3
|
APN |
6 |
121,387,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01728:Iqsec3
|
APN |
6 |
121,389,623 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01935:Iqsec3
|
APN |
6 |
121,360,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02146:Iqsec3
|
APN |
6 |
121,360,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02369:Iqsec3
|
APN |
6 |
121,389,893 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02684:Iqsec3
|
APN |
6 |
121,389,900 (GRCm39) |
nonsense |
probably null |
|
|
IGL03180:Iqsec3
|
APN |
6 |
121,390,467 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0032:Iqsec3
|
UTSW |
6 |
121,450,089 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0088:Iqsec3
|
UTSW |
6 |
121,450,248 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0189:Iqsec3
|
UTSW |
6 |
121,390,521 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0193:Iqsec3
|
UTSW |
6 |
121,387,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Iqsec3
|
UTSW |
6 |
121,389,743 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1885:Iqsec3
|
UTSW |
6 |
121,405,326 (GRCm39) |
intron |
probably benign |
|
|
R2698:Iqsec3
|
UTSW |
6 |
121,390,430 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R3751:Iqsec3
|
UTSW |
6 |
121,353,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3753:Iqsec3
|
UTSW |
6 |
121,353,214 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3948:Iqsec3
|
UTSW |
6 |
121,364,783 (GRCm39) |
nonsense |
probably null |
|
|
R3949:Iqsec3
|
UTSW |
6 |
121,364,783 (GRCm39) |
nonsense |
probably null |
|
|
R4006:Iqsec3
|
UTSW |
6 |
121,353,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4007:Iqsec3
|
UTSW |
6 |
121,353,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Iqsec3
|
UTSW |
6 |
121,389,999 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4535:Iqsec3
|
UTSW |
6 |
121,356,977 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4567:Iqsec3
|
UTSW |
6 |
121,364,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5096:Iqsec3
|
UTSW |
6 |
121,363,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Iqsec3
|
UTSW |
6 |
121,360,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5289:Iqsec3
|
UTSW |
6 |
121,363,659 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5537:Iqsec3
|
UTSW |
6 |
121,389,603 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6555:Iqsec3
|
UTSW |
6 |
121,361,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Iqsec3
|
UTSW |
6 |
121,450,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Iqsec3
|
UTSW |
6 |
121,450,317 (GRCm39) |
missense |
unknown |
|
|
R7372:Iqsec3
|
UTSW |
6 |
121,360,991 (GRCm39) |
nonsense |
probably null |
|
|
R7394:Iqsec3
|
UTSW |
6 |
121,363,569 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7559:Iqsec3
|
UTSW |
6 |
121,364,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Iqsec3
|
UTSW |
6 |
121,360,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Iqsec3
|
UTSW |
6 |
121,450,317 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8114:Iqsec3
|
UTSW |
6 |
121,390,458 (GRCm39) |
missense |
unknown |
|
|
R8115:Iqsec3
|
UTSW |
6 |
121,449,989 (GRCm39) |
missense |
unknown |
|
|
R8197:Iqsec3
|
UTSW |
6 |
121,389,971 (GRCm39) |
missense |
unknown |
|
|
R8353:Iqsec3
|
UTSW |
6 |
121,364,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Iqsec3
|
UTSW |
6 |
121,364,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Iqsec3
|
UTSW |
6 |
121,358,676 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8500:Iqsec3
|
UTSW |
6 |
121,389,813 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8514:Iqsec3
|
UTSW |
6 |
121,390,521 (GRCm39) |
missense |
unknown |
|
|
R8890:Iqsec3
|
UTSW |
6 |
121,389,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8909:Iqsec3
|
UTSW |
6 |
121,390,118 (GRCm39) |
missense |
unknown |
|
|
R8970:Iqsec3
|
UTSW |
6 |
121,366,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8993:Iqsec3
|
UTSW |
6 |
121,390,272 (GRCm39) |
missense |
unknown |
|
|
R9012:Iqsec3
|
UTSW |
6 |
121,389,996 (GRCm39) |
missense |
unknown |
|
|
R9534:Iqsec3
|
UTSW |
6 |
121,367,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCCGTGGCTAACAGAAAG -3'
(R):5'- AGCCAGTTGGTAAAGGTCAG -3'
Sequencing Primer
(F):5'- TCCGTGGCTAACAGAAAGAGAGTG -3'
(R):5'- GGTCAGAGGCAAAACTCAATC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation