Incidental Mutation 'R1453:Nhsl1'
ID |
161615 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
039508-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1453 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18407323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1486
(S1486P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000207038]
|
AlphaFold |
Q8CAF4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037341
AA Change: S1456P
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: S1456P
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 |
possibly damaging
Transcript: ENSMUST00000100054
AA Change: S1452P
PolyPhen 2
Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: S1452P
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 damaging
Transcript: ENSMUST00000207038
AA Change: S1486P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,862,763 (GRCm39) |
I240M |
probably benign |
Het |
Abcd3 |
A |
T |
3: 121,558,710 (GRCm39) |
D595E |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,025,614 (GRCm39) |
|
probably null |
Het |
Arpc1b |
A |
G |
5: 145,062,555 (GRCm39) |
D223G |
probably damaging |
Het |
Atp6ap1l |
T |
A |
13: 91,046,866 (GRCm39) |
T104S |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,969 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,587,903 (GRCm39) |
D477G |
possibly damaging |
Het |
Chrdl2 |
T |
C |
7: 99,666,197 (GRCm39) |
V39A |
possibly damaging |
Het |
Clmp |
C |
G |
9: 40,693,737 (GRCm39) |
S318W |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,717,853 (GRCm39) |
S323P |
probably damaging |
Het |
Cnksr3 |
T |
C |
10: 7,079,132 (GRCm39) |
T80A |
probably benign |
Het |
Ddx25 |
T |
C |
9: 35,453,298 (GRCm39) |
Y484C |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,073,075 (GRCm39) |
V154A |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 49,990,316 (GRCm39) |
V252I |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,341,876 (GRCm39) |
Y3003C |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,370,480 (GRCm39) |
|
probably null |
Het |
Dppa4 |
G |
A |
16: 48,111,596 (GRCm39) |
A194T |
probably damaging |
Het |
Dst |
T |
C |
1: 34,228,527 (GRCm39) |
V2218A |
possibly damaging |
Het |
Dytn |
G |
C |
1: 63,673,032 (GRCm39) |
S457C |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,777,768 (GRCm39) |
Q1101* |
probably null |
Het |
Focad |
A |
T |
4: 88,275,679 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
Gm5093 |
A |
G |
17: 46,750,622 (GRCm39) |
F135S |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,969,759 (GRCm39) |
D71E |
possibly damaging |
Het |
Heatr5b |
G |
A |
17: 79,124,992 (GRCm39) |
R587C |
probably damaging |
Het |
Jakmip2 |
T |
C |
18: 43,692,279 (GRCm39) |
|
probably null |
Het |
Mier3 |
T |
A |
13: 111,841,778 (GRCm39) |
L111Q |
probably damaging |
Het |
Mrgprg |
G |
A |
7: 143,318,779 (GRCm39) |
S111F |
possibly damaging |
Het |
Mybl1 |
T |
C |
1: 9,741,901 (GRCm39) |
K677R |
probably benign |
Het |
Nup133 |
A |
G |
8: 124,642,114 (GRCm39) |
I783T |
probably benign |
Het |
Or10d4c |
A |
T |
9: 39,558,459 (GRCm39) |
T146S |
probably benign |
Het |
Or5an1c |
A |
T |
19: 12,218,956 (GRCm39) |
I23K |
probably benign |
Het |
Pigr |
A |
T |
1: 130,769,281 (GRCm39) |
I31L |
probably benign |
Het |
Plaat5 |
A |
G |
19: 7,616,999 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,338,917 (GRCm39) |
M39K |
possibly damaging |
Het |
Rapgef6 |
T |
A |
11: 54,530,553 (GRCm39) |
|
probably null |
Het |
Rinl |
T |
C |
7: 28,496,329 (GRCm39) |
C437R |
probably damaging |
Het |
Shank1 |
T |
C |
7: 43,965,499 (GRCm39) |
S192P |
unknown |
Het |
Slc2a10 |
A |
T |
2: 165,359,570 (GRCm39) |
Y478F |
probably damaging |
Het |
Slc37a3 |
A |
T |
6: 39,343,877 (GRCm39) |
L12H |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,414,393 (GRCm39) |
C970S |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,496,857 (GRCm39) |
S119P |
probably damaging |
Het |
Stim2 |
C |
A |
5: 54,273,451 (GRCm39) |
D568E |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf3 |
A |
G |
12: 111,221,757 (GRCm39) |
E306G |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,049,714 (GRCm39) |
S811P |
possibly damaging |
Het |
Ubr7 |
A |
G |
12: 102,735,437 (GRCm39) |
K299E |
probably benign |
Het |
Urb1 |
C |
A |
16: 90,593,380 (GRCm39) |
V251L |
probably damaging |
Het |
Vps13b |
G |
T |
15: 35,422,590 (GRCm39) |
E183D |
probably damaging |
Het |
Zfp35 |
T |
G |
18: 24,136,557 (GRCm39) |
Y300* |
probably null |
Het |
Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
Zfp938 |
C |
T |
10: 82,063,632 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGACAACTTCAAAGCTCTGCTGC -3'
(R):5'- AGAGTGATGCACAGCTCACCTTCC -3'
Sequencing Primer
(F):5'- CTTCAAAGCTCTGCTGCTAAAG -3'
(R):5'- GAGGCAGGCTCTGATACTAACTC -3'
|
Posted On |
2014-03-14 |