Incidental Mutation 'R6765:Nhsl1'
| ID |
531869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
044881-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18407062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1399
(T1399S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037341
AA Change: T1369S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: T1369S
| 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 benign
Transcript: ENSMUST00000100054
AA Change: T1365S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: T1365S
| 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 |
probably benign
Transcript: ENSMUST00000207038
AA Change: T1399S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl3 |
C |
A |
7: 82,216,232 (GRCm39) |
D878E |
possibly damaging |
Het |
| Adipor2 |
A |
C |
6: 119,334,203 (GRCm39) |
F336V |
possibly damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| Aoc1 |
A |
G |
6: 48,882,871 (GRCm39) |
N249S |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,427 (GRCm39) |
L261Q |
probably damaging |
Het |
| Ap3b1 |
T |
A |
13: 94,599,017 (GRCm39) |
D530E |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,361,900 (GRCm39) |
M788K |
possibly damaging |
Het |
| Atp2c2 |
A |
T |
8: 120,479,756 (GRCm39) |
I762F |
probably damaging |
Het |
| Bhlhe23 |
C |
A |
2: 180,418,136 (GRCm39) |
R134L |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,777,934 (GRCm39) |
D687G |
probably damaging |
Het |
| Ccdc136 |
G |
A |
6: 29,405,940 (GRCm39) |
M95I |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,115,355 (GRCm39) |
I832N |
unknown |
Het |
| Clcn2 |
A |
C |
16: 20,526,418 (GRCm39) |
|
probably null |
Het |
| Csrnp2 |
C |
T |
15: 100,380,574 (GRCm39) |
R239Q |
probably damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,927,965 (GRCm39) |
D270E |
probably benign |
Het |
| Dlgap2 |
G |
A |
8: 14,793,284 (GRCm39) |
G426D |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fam120a |
A |
G |
13: 49,045,440 (GRCm39) |
Y799H |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,460,066 (GRCm39) |
V112I |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,367,177 (GRCm39) |
D240G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,816,776 (GRCm39) |
I4170V |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,806,531 (GRCm39) |
V220A |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,860 (GRCm39) |
Y128C |
probably damaging |
Het |
| Gsto2 |
A |
T |
19: 47,860,227 (GRCm39) |
R7* |
probably null |
Het |
| Itih3 |
C |
T |
14: 30,631,430 (GRCm39) |
G822D |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,403,673 (GRCm39) |
D728V |
probably damaging |
Het |
| Khdc4 |
G |
T |
3: 88,593,736 (GRCm39) |
G42W |
probably damaging |
Het |
| Lnpep |
G |
A |
17: 17,750,758 (GRCm39) |
T976I |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,562,449 (GRCm39) |
H2420Q |
unknown |
Het |
| Mc1r |
A |
G |
8: 124,134,435 (GRCm39) |
K63E |
probably damaging |
Het |
| Mpped1 |
G |
A |
15: 83,720,584 (GRCm39) |
V15M |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,264,272 (GRCm39) |
T103A |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,216,996 (GRCm39) |
T995M |
probably benign |
Het |
| Nrbp1 |
G |
A |
5: 31,403,190 (GRCm39) |
|
probably null |
Het |
| Or10g9 |
A |
C |
9: 39,912,493 (GRCm39) |
F10C |
probably damaging |
Het |
| Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
| Or8k27 |
T |
C |
2: 86,275,580 (GRCm39) |
T249A |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,663 (GRCm39) |
L347P |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,563 (GRCm39) |
T4047A |
probably benign |
Het |
| Prrt2 |
T |
A |
7: 126,618,769 (GRCm39) |
D232V |
probably damaging |
Het |
| Psmd5 |
A |
C |
2: 34,746,545 (GRCm39) |
M344R |
probably benign |
Het |
| Pwp1 |
G |
A |
10: 85,720,397 (GRCm39) |
E345K |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,666,851 (GRCm39) |
Y213H |
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,309,203 (GRCm39) |
N92D |
possibly damaging |
Het |
| Sclt1 |
T |
C |
3: 41,685,337 (GRCm39) |
R39G |
unknown |
Het |
| Syne1 |
A |
T |
10: 5,093,285 (GRCm39) |
|
probably null |
Het |
| Tmem163 |
G |
T |
1: 127,479,078 (GRCm39) |
A147E |
probably damaging |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,557 (GRCm39) |
M109L |
probably benign |
Het |
| Trp53bp1 |
T |
C |
2: 121,039,790 (GRCm39) |
E1283G |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,855,129 (GRCm39) |
D1929E |
probably damaging |
Het |
| Upb1 |
A |
T |
10: 75,273,978 (GRCm39) |
D335V |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,924,104 (GRCm39) |
E213G |
probably damaging |
Het |
| Vwc2 |
C |
T |
11: 11,104,215 (GRCm39) |
T249I |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,391,409 (GRCm39) |
C4692R |
unknown |
Het |
| Zfp106 |
T |
C |
2: 120,369,935 (GRCm39) |
E29G |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,767 (GRCm39) |
A214V |
possibly damaging |
Het |
| Zfp981 |
T |
A |
4: 146,622,363 (GRCm39) |
H429Q |
probably benign |
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 |
|
IGL03263:Nhsl1
|
APN |
10 |
18,373,827 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGAAGCTCTTGGGCTC -3'
(R):5'- ACCTAGATCTCTGGAAGCGAGG -3'
Sequencing Primer
(F):5'- AAGCTCTTGGGCTCGTCTTTAATG -3'
(R):5'- GTCCGTAGACTTGAGCATCTCAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation