Incidental Mutation 'IGL03263:Nhsl1'
| ID |
414968 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03263
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 18373827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 164
(Y164*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037341
AA Change: Y134*
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: Y134*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NHS
|
258 |
906 |
1.6e-246 |
PFAM |
|
low complexity region
|
918 |
938 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
950 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
970 |
N/A |
INTRINSIC |
|
low complexity region
|
992 |
1024 |
N/A |
INTRINSIC |
|
low complexity region
|
1171 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1373 |
1385 |
N/A |
INTRINSIC |
|
low complexity region
|
1442 |
1460 |
N/A |
INTRINSIC |
|
low complexity region
|
1484 |
1503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100054
AA Change: Y86*
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: Y86*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
253 |
902 |
7.3e-250 |
PFAM |
|
low complexity region
|
914 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1381 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1480 |
1499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159299
|
| SMART Domains |
Protein: ENSMUSP00000124629
Gene: ENSMUSG00000039835
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160600
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160602
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162891
AA Change: Y86*
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: Y86*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
253 |
902 |
2.1e-250 |
PFAM |
|
low complexity region
|
914 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207038
AA Change: Y164*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
A |
5: 138,562,499 (GRCm39) |
I81F |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,351,754 (GRCm39) |
H1164Y |
probably damaging |
Het |
| Adamts5 |
A |
T |
16: 85,666,830 (GRCm39) |
V554E |
probably damaging |
Het |
| Asns |
G |
A |
6: 7,689,404 (GRCm39) |
R33C |
probably benign |
Het |
| BC051076 |
T |
G |
5: 88,111,977 (GRCm39) |
|
noncoding transcript |
Het |
| Bcas3 |
C |
T |
11: 85,712,948 (GRCm39) |
|
probably benign |
Het |
| Bpifb1 |
A |
G |
2: 154,057,226 (GRCm39) |
M395V |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,009,152 (GRCm39) |
V509L |
probably benign |
Het |
| Cdhr2 |
A |
G |
13: 54,865,926 (GRCm39) |
T277A |
possibly damaging |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Clca4a |
T |
A |
3: 144,672,192 (GRCm39) |
E250V |
probably damaging |
Het |
| Cplx4 |
T |
C |
18: 66,100,559 (GRCm39) |
D79G |
probably benign |
Het |
| Dcaf11 |
A |
G |
14: 55,802,949 (GRCm39) |
D246G |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,420,207 (GRCm39) |
|
probably null |
Het |
| Dock3 |
A |
T |
9: 106,807,330 (GRCm39) |
|
probably benign |
Het |
| Fam170a |
T |
C |
18: 50,413,588 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,149 (GRCm39) |
M423L |
probably benign |
Het |
| Gabra2 |
A |
G |
5: 71,130,836 (GRCm39) |
F331L |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,119,321 (GRCm39) |
R400Q |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,859,805 (GRCm39) |
Q266L |
probably damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,857,499 (GRCm39) |
V502D |
probably damaging |
Het |
| Ik |
A |
G |
18: 36,881,699 (GRCm39) |
N111S |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,627,027 (GRCm39) |
Y269* |
probably null |
Het |
| Krt82 |
T |
C |
15: 101,450,307 (GRCm39) |
Y463C |
probably benign |
Het |
| Lrig1 |
A |
G |
6: 94,588,628 (GRCm39) |
M507T |
probably benign |
Het |
| Lrrc37 |
A |
G |
11: 103,504,525 (GRCm39) |
V2481A |
possibly damaging |
Het |
| Mag |
T |
G |
7: 30,598,953 (GRCm39) |
|
probably null |
Het |
| Map7 |
T |
A |
10: 20,121,068 (GRCm39) |
Y121* |
probably null |
Het |
| Marchf6 |
A |
G |
15: 31,486,508 (GRCm39) |
I349T |
probably benign |
Het |
| Mas1 |
A |
G |
17: 13,060,451 (GRCm39) |
V324A |
possibly damaging |
Het |
| Nckap1l |
T |
C |
15: 103,372,832 (GRCm39) |
W259R |
probably damaging |
Het |
| Or52e5 |
T |
A |
7: 104,719,209 (GRCm39) |
H178Q |
probably damaging |
Het |
| Or8b38 |
A |
T |
9: 37,973,009 (GRCm39) |
Y131F |
probably damaging |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,059 (GRCm39) |
D344G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,731,824 (GRCm39) |
V3442A |
unknown |
Het |
| Polr3c |
C |
T |
3: 96,621,567 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
C |
T |
7: 138,474,651 (GRCm39) |
R11* |
probably null |
Het |
| Ptgfr |
T |
A |
3: 151,541,500 (GRCm39) |
M3L |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,601,903 (GRCm39) |
S741G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,980,273 (GRCm39) |
V490A |
probably damaging |
Het |
| Samd7 |
T |
A |
3: 30,816,302 (GRCm39) |
H349Q |
probably damaging |
Het |
| Sh3pxd2a |
T |
C |
19: 47,302,482 (GRCm39) |
N199S |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,667,305 (GRCm39) |
K794N |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,041,484 (GRCm39) |
A1316V |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,240,575 (GRCm39) |
E410G |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,215,084 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,064,711 (GRCm39) |
Y581S |
probably damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,796,877 (GRCm39) |
D298G |
probably damaging |
Het |
|
| Other mutations in Nhsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Nhsl1
|
APN |
10 |
18,403,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01121:Nhsl1
|
APN |
10 |
18,387,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01775:Nhsl1
|
APN |
10 |
18,400,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02143:Nhsl1
|
APN |
10 |
18,387,383 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02606:Nhsl1
|
APN |
10 |
18,387,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Nhsl1
|
APN |
10 |
18,284,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02866:Nhsl1
|
APN |
10 |
18,403,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03380:Nhsl1
|
APN |
10 |
18,399,627 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Nhsl1
|
UTSW |
10 |
18,284,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,401,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,401,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Nhsl1
|
UTSW |
10 |
18,400,990 (GRCm39) |
nonsense |
probably null |
|
|
R0245:Nhsl1
|
UTSW |
10 |
18,400,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Nhsl1
|
UTSW |
10 |
18,348,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Nhsl1
|
UTSW |
10 |
18,399,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Nhsl1
|
UTSW |
10 |
18,407,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1055:Nhsl1
|
UTSW |
10 |
18,401,223 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1300:Nhsl1
|
UTSW |
10 |
18,284,209 (GRCm39) |
missense |
probably benign |
|
|
R1384:Nhsl1
|
UTSW |
10 |
18,284,261 (GRCm39) |
missense |
probably null |
0.96 |
|
R1453:Nhsl1
|
UTSW |
10 |
18,407,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Nhsl1
|
UTSW |
10 |
18,284,103 (GRCm39) |
missense |
probably benign |
|
|
R1595:Nhsl1
|
UTSW |
10 |
18,402,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1786:Nhsl1
|
UTSW |
10 |
18,400,412 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1836:Nhsl1
|
UTSW |
10 |
18,400,653 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1878:Nhsl1
|
UTSW |
10 |
18,400,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Nhsl1
|
UTSW |
10 |
18,400,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Nhsl1
|
UTSW |
10 |
18,400,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3754:Nhsl1
|
UTSW |
10 |
18,391,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4342:Nhsl1
|
UTSW |
10 |
18,402,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Nhsl1
|
UTSW |
10 |
18,403,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4604:Nhsl1
|
UTSW |
10 |
18,407,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4666:Nhsl1
|
UTSW |
10 |
18,407,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Nhsl1
|
UTSW |
10 |
18,402,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5258:Nhsl1
|
UTSW |
10 |
18,400,070 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Nhsl1
|
UTSW |
10 |
18,402,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Nhsl1
|
UTSW |
10 |
18,399,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5960:Nhsl1
|
UTSW |
10 |
18,402,724 (GRCm39) |
missense |
probably benign |
|
|
R6190:Nhsl1
|
UTSW |
10 |
18,345,789 (GRCm39) |
intron |
probably benign |
|
|
R6272:Nhsl1
|
UTSW |
10 |
18,400,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6677:Nhsl1
|
UTSW |
10 |
18,401,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6714:Nhsl1
|
UTSW |
10 |
18,400,459 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6765:Nhsl1
|
UTSW |
10 |
18,407,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6892:Nhsl1
|
UTSW |
10 |
18,400,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Nhsl1
|
UTSW |
10 |
18,407,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7060:Nhsl1
|
UTSW |
10 |
18,402,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Nhsl1
|
UTSW |
10 |
18,401,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Nhsl1
|
UTSW |
10 |
18,403,419 (GRCm39) |
splice site |
probably null |
|
|
R7305:Nhsl1
|
UTSW |
10 |
18,407,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7513:Nhsl1
|
UTSW |
10 |
18,399,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Nhsl1
|
UTSW |
10 |
18,391,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Nhsl1
|
UTSW |
10 |
18,284,186 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8135:Nhsl1
|
UTSW |
10 |
18,407,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Nhsl1
|
UTSW |
10 |
18,402,487 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8391:Nhsl1
|
UTSW |
10 |
18,400,691 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8396:Nhsl1
|
UTSW |
10 |
18,400,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8752:Nhsl1
|
UTSW |
10 |
18,407,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9022:Nhsl1
|
UTSW |
10 |
18,403,409 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9087:Nhsl1
|
UTSW |
10 |
18,407,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Nhsl1
|
UTSW |
10 |
18,194,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Nhsl1
|
UTSW |
10 |
18,399,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Nhsl1
|
UTSW |
10 |
18,401,599 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9673:Nhsl1
|
UTSW |
10 |
18,402,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Nhsl1
|
UTSW |
10 |
18,402,337 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2016-08-02 |
Incidental Mutation