Incidental Mutation 'IGL02654:Nhsl3'
ID |
302275 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nhsl3
|
Ensembl Gene |
ENSMUSG00000050390 |
Gene Name |
NHS like 3 |
Synonyms |
C77080 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
IGL02654
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
129113371-129155194 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 129116112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 851
(G851R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095483
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052602]
[ENSMUST00000097873]
[ENSMUST00000106051]
[ENSMUST00000106054]
[ENSMUST00000145261]
[ENSMUST00000146376]
|
AlphaFold |
A2A7S8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052602
AA Change: G896R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062395 Gene: ENSMUSG00000050390 AA Change: G896R
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
low complexity region
|
39 |
80 |
N/A |
INTRINSIC |
low complexity region
|
209 |
215 |
N/A |
INTRINSIC |
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
low complexity region
|
393 |
418 |
N/A |
INTRINSIC |
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
low complexity region
|
492 |
499 |
N/A |
INTRINSIC |
low complexity region
|
532 |
550 |
N/A |
INTRINSIC |
low complexity region
|
555 |
588 |
N/A |
INTRINSIC |
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
low complexity region
|
657 |
690 |
N/A |
INTRINSIC |
low complexity region
|
724 |
739 |
N/A |
INTRINSIC |
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
low complexity region
|
810 |
833 |
N/A |
INTRINSIC |
low complexity region
|
916 |
930 |
N/A |
INTRINSIC |
low complexity region
|
988 |
1020 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097873
AA Change: G851R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095483 Gene: ENSMUSG00000050390 AA Change: G851R
Domain | Start | End | E-Value | Type |
low complexity region
|
164 |
170 |
N/A |
INTRINSIC |
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
low complexity region
|
348 |
373 |
N/A |
INTRINSIC |
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
low complexity region
|
447 |
454 |
N/A |
INTRINSIC |
low complexity region
|
487 |
505 |
N/A |
INTRINSIC |
low complexity region
|
510 |
543 |
N/A |
INTRINSIC |
low complexity region
|
576 |
589 |
N/A |
INTRINSIC |
low complexity region
|
612 |
645 |
N/A |
INTRINSIC |
low complexity region
|
679 |
694 |
N/A |
INTRINSIC |
low complexity region
|
698 |
728 |
N/A |
INTRINSIC |
low complexity region
|
765 |
788 |
N/A |
INTRINSIC |
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
low complexity region
|
943 |
975 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106051
AA Change: G839R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101666 Gene: ENSMUSG00000050390 AA Change: G839R
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
158 |
N/A |
INTRINSIC |
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
low complexity region
|
308 |
325 |
N/A |
INTRINSIC |
low complexity region
|
336 |
361 |
N/A |
INTRINSIC |
low complexity region
|
392 |
407 |
N/A |
INTRINSIC |
low complexity region
|
435 |
442 |
N/A |
INTRINSIC |
low complexity region
|
475 |
493 |
N/A |
INTRINSIC |
low complexity region
|
498 |
531 |
N/A |
INTRINSIC |
low complexity region
|
564 |
577 |
N/A |
INTRINSIC |
low complexity region
|
600 |
633 |
N/A |
INTRINSIC |
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
low complexity region
|
686 |
716 |
N/A |
INTRINSIC |
low complexity region
|
753 |
776 |
N/A |
INTRINSIC |
low complexity region
|
859 |
873 |
N/A |
INTRINSIC |
low complexity region
|
931 |
963 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106054
|
SMART Domains |
Protein: ENSMUSP00000101669 Gene: ENSMUSG00000028811
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
Pfam:tRNA-synt_1b
|
67 |
358 |
1e-78 |
PFAM |
Pfam:tRNA_bind
|
406 |
502 |
7.1e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137591
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145261
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146376
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,977,826 (GRCm39) |
I468T |
possibly damaging |
Het |
Actmap |
A |
G |
7: 26,903,298 (GRCm39) |
E289G |
probably damaging |
Het |
Anxa13 |
A |
G |
15: 58,205,397 (GRCm39) |
|
noncoding transcript |
Het |
Arhgef33 |
A |
G |
17: 80,677,740 (GRCm39) |
Y429C |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,275,433 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,817,473 (GRCm39) |
|
probably benign |
Het |
Dld |
G |
T |
12: 31,383,916 (GRCm39) |
H396N |
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,319 (GRCm39) |
V942A |
probably damaging |
Het |
Eln |
A |
T |
5: 134,745,908 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,908,271 (GRCm39) |
T2577M |
possibly damaging |
Het |
Gad1 |
A |
T |
2: 70,403,125 (GRCm39) |
K73M |
possibly damaging |
Het |
Gipc1 |
T |
C |
8: 84,389,780 (GRCm39) |
V253A |
probably damaging |
Het |
Gtpbp10 |
A |
C |
5: 5,593,372 (GRCm39) |
|
probably benign |
Het |
Hgf |
A |
T |
5: 16,766,049 (GRCm39) |
T62S |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,311,161 (GRCm39) |
S1134P |
probably damaging |
Het |
Hnrnpc |
A |
G |
14: 52,321,574 (GRCm39) |
L80S |
probably damaging |
Het |
Kif20a |
G |
A |
18: 34,765,076 (GRCm39) |
R770H |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,401 (GRCm39) |
T374A |
possibly damaging |
Het |
Mlana |
A |
G |
19: 29,682,018 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,100,716 (GRCm39) |
I169V |
possibly damaging |
Het |
Or2ag15 |
A |
T |
7: 106,340,555 (GRCm39) |
Y195* |
probably null |
Het |
P3h3 |
A |
G |
6: 124,822,228 (GRCm39) |
V585A |
possibly damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,619,614 (GRCm39) |
M468K |
probably benign |
Het |
Prl8a2 |
T |
G |
13: 27,536,780 (GRCm39) |
I134S |
possibly damaging |
Het |
Rev3l |
T |
C |
10: 39,738,730 (GRCm39) |
V2828A |
probably damaging |
Het |
Rhbdd1 |
G |
T |
1: 82,320,504 (GRCm39) |
V163F |
probably benign |
Het |
Rrp1 |
A |
G |
10: 78,248,773 (GRCm39) |
V5A |
probably benign |
Het |
Sephs1 |
A |
T |
2: 4,889,366 (GRCm39) |
N48I |
probably benign |
Het |
Speer4a3 |
T |
A |
5: 26,158,205 (GRCm39) |
H49L |
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,482,242 (GRCm39) |
Y149H |
probably benign |
Het |
Wiz |
T |
C |
17: 32,578,324 (GRCm39) |
D396G |
probably damaging |
Het |
Xirp2 |
A |
G |
2: 67,345,015 (GRCm39) |
S2419G |
possibly damaging |
Het |
Zfp128 |
A |
G |
7: 12,618,606 (GRCm39) |
T35A |
possibly damaging |
Het |
Zmym2 |
T |
A |
14: 57,148,772 (GRCm39) |
F362Y |
probably damaging |
Het |
|
Other mutations in Nhsl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01530:Nhsl3
|
APN |
4 |
129,116,589 (GRCm39) |
splice site |
probably null |
|
IGL02797:Nhsl3
|
APN |
4 |
129,117,104 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03231:Nhsl3
|
APN |
4 |
129,117,474 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL03134:Nhsl3
|
UTSW |
4 |
129,116,280 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0078:Nhsl3
|
UTSW |
4 |
129,121,516 (GRCm39) |
splice site |
probably null |
|
R0418:Nhsl3
|
UTSW |
4 |
129,117,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R1374:Nhsl3
|
UTSW |
4 |
129,116,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1632:Nhsl3
|
UTSW |
4 |
129,116,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1735:Nhsl3
|
UTSW |
4 |
129,117,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Nhsl3
|
UTSW |
4 |
129,119,810 (GRCm39) |
splice site |
probably benign |
|
R2018:Nhsl3
|
UTSW |
4 |
129,116,148 (GRCm39) |
missense |
probably damaging |
0.96 |
R2157:Nhsl3
|
UTSW |
4 |
129,117,917 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2201:Nhsl3
|
UTSW |
4 |
129,116,432 (GRCm39) |
missense |
probably benign |
|
R2316:Nhsl3
|
UTSW |
4 |
129,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R3751:Nhsl3
|
UTSW |
4 |
129,118,115 (GRCm39) |
unclassified |
probably benign |
|
R4648:Nhsl3
|
UTSW |
4 |
129,115,733 (GRCm39) |
missense |
probably benign |
0.00 |
R4790:Nhsl3
|
UTSW |
4 |
129,117,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R4885:Nhsl3
|
UTSW |
4 |
129,118,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Nhsl3
|
UTSW |
4 |
129,116,478 (GRCm39) |
missense |
probably damaging |
0.99 |
R5270:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5272:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5273:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5314:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5548:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
R5752:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
R5908:Nhsl3
|
UTSW |
4 |
129,115,941 (GRCm39) |
missense |
probably damaging |
0.98 |
R5960:Nhsl3
|
UTSW |
4 |
129,115,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R7024:Nhsl3
|
UTSW |
4 |
129,119,201 (GRCm39) |
missense |
probably null |
0.73 |
R7296:Nhsl3
|
UTSW |
4 |
129,119,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Nhsl3
|
UTSW |
4 |
129,115,835 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7638:Nhsl3
|
UTSW |
4 |
129,115,734 (GRCm39) |
missense |
probably benign |
|
R7689:Nhsl3
|
UTSW |
4 |
129,117,566 (GRCm39) |
missense |
probably benign |
0.25 |
R7819:Nhsl3
|
UTSW |
4 |
129,116,276 (GRCm39) |
missense |
probably benign |
0.31 |
R8213:Nhsl3
|
UTSW |
4 |
129,115,252 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8219:Nhsl3
|
UTSW |
4 |
129,141,946 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8348:Nhsl3
|
UTSW |
4 |
129,117,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R8360:Nhsl3
|
UTSW |
4 |
129,117,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8788:Nhsl3
|
UTSW |
4 |
129,119,743 (GRCm39) |
missense |
probably benign |
|
R9252:Nhsl3
|
UTSW |
4 |
129,117,269 (GRCm39) |
missense |
probably benign |
0.01 |
R9652:Nhsl3
|
UTSW |
4 |
129,117,962 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1088:Nhsl3
|
UTSW |
4 |
129,116,091 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Nhsl3
|
UTSW |
4 |
129,117,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |