Incidental Mutation 'R8752:Nhsl1'
ID |
663923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
068595-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8752 (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 G
at 18407113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 1416
(N1416D)
|
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: N1386D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: N1386D
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: N1382D
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: N1382D
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: N1416D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
T |
C |
11: 109,704,396 (GRCm39) |
K82R |
probably damaging |
Het |
Acad8 |
A |
T |
9: 26,896,853 (GRCm39) |
M202K |
probably damaging |
Het |
Adam29 |
A |
T |
8: 56,325,328 (GRCm39) |
C375* |
probably null |
Het |
Adat2 |
A |
T |
10: 13,432,604 (GRCm39) |
E35D |
probably benign |
Het |
Afm |
A |
C |
5: 90,700,424 (GRCm39) |
E600D |
probably benign |
Het |
Ahnak |
T |
A |
19: 8,992,901 (GRCm39) |
D4728E |
probably damaging |
Het |
Ak7 |
AAGGAG |
AAG |
12: 105,713,476 (GRCm39) |
|
probably benign |
Het |
Ankrd28 |
C |
A |
14: 31,477,699 (GRCm39) |
|
probably benign |
Het |
Ankrd31 |
A |
T |
13: 96,916,879 (GRCm39) |
H131L |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,196,617 (GRCm39) |
F183L |
probably damaging |
Het |
Asah1 |
G |
A |
8: 41,813,314 (GRCm39) |
S33L |
possibly damaging |
Het |
Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,818 (GRCm39) |
Y293H |
probably damaging |
Het |
Cd302 |
A |
G |
2: 60,102,529 (GRCm39) |
F30S |
probably damaging |
Het |
Ces1c |
C |
G |
8: 93,846,964 (GRCm39) |
A243P |
probably damaging |
Het |
Deptor |
A |
T |
15: 55,044,280 (GRCm39) |
T149S |
probably benign |
Het |
Dnah14 |
G |
A |
1: 181,455,581 (GRCm39) |
R902H |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,290,365 (GRCm39) |
I1252V |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,711,701 (GRCm39) |
I2643V |
probably benign |
Het |
Dnajc4 |
C |
T |
19: 6,966,801 (GRCm39) |
V177I |
probably benign |
Het |
Efhc1 |
A |
T |
1: 21,059,692 (GRCm39) |
N581Y |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,214,759 (GRCm39) |
T767A |
probably damaging |
Het |
Etv6 |
A |
G |
6: 134,243,391 (GRCm39) |
E382G |
probably benign |
Het |
Foxd4 |
A |
T |
19: 24,878,094 (GRCm39) |
D35E |
probably damaging |
Het |
Gata2 |
T |
C |
6: 88,177,513 (GRCm39) |
V181A |
possibly damaging |
Het |
Gm5114 |
A |
T |
7: 39,057,927 (GRCm39) |
M564K |
probably damaging |
Het |
Gpr45 |
A |
T |
1: 43,071,842 (GRCm39) |
I162F |
possibly damaging |
Het |
Hic1 |
A |
G |
11: 75,060,206 (GRCm39) |
F47S |
probably benign |
Het |
Hsf1 |
C |
A |
15: 76,384,344 (GRCm39) |
S417* |
probably null |
Het |
Id4 |
A |
T |
13: 48,415,065 (GRCm39) |
H31L |
possibly damaging |
Het |
Il12rb2 |
T |
C |
6: 67,328,265 (GRCm39) |
S322G |
probably damaging |
Het |
Lcn11 |
T |
C |
2: 25,668,138 (GRCm39) |
Y99H |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,372,367 (GRCm39) |
R142Q |
probably damaging |
Het |
Mpp2 |
A |
G |
11: 101,976,129 (GRCm39) |
S10P |
probably benign |
Het |
Muc15 |
A |
T |
2: 110,561,758 (GRCm39) |
N65Y |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,596,165 (GRCm39) |
|
probably benign |
Het |
Ndst3 |
C |
T |
3: 123,342,684 (GRCm39) |
R709Q |
probably damaging |
Het |
Nek11 |
G |
T |
9: 105,225,207 (GRCm39) |
Q102K |
probably benign |
Het |
Or13p3 |
A |
C |
4: 118,567,083 (GRCm39) |
T160P |
probably damaging |
Het |
Or2v1 |
T |
A |
11: 49,025,505 (GRCm39) |
V162E |
possibly damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
Or5p72 |
T |
C |
7: 108,022,480 (GRCm39) |
I234T |
probably benign |
Het |
Or5w20 |
T |
C |
2: 87,726,591 (GRCm39) |
I16T |
possibly damaging |
Het |
Parp4 |
G |
T |
14: 56,886,073 (GRCm39) |
E1717D |
unknown |
Het |
Pla2g4d |
A |
T |
2: 120,099,248 (GRCm39) |
|
probably null |
Het |
Pramel52-ps |
A |
T |
5: 94,529,354 (GRCm39) |
R41S |
possibly damaging |
Het |
Psmc2 |
A |
G |
5: 22,001,533 (GRCm39) |
I107V |
probably benign |
Het |
Rhod |
G |
T |
19: 4,476,121 (GRCm39) |
T210N |
probably damaging |
Het |
Setx |
A |
T |
2: 29,048,992 (GRCm39) |
D2006V |
probably damaging |
Het |
Sfpq |
T |
A |
4: 126,919,969 (GRCm39) |
M541K |
possibly damaging |
Het |
Sorbs1 |
C |
T |
19: 40,349,872 (GRCm39) |
|
probably null |
Het |
Sv2b |
C |
A |
7: 74,855,842 (GRCm39) |
M149I |
possibly damaging |
Het |
Svil |
T |
A |
18: 5,060,366 (GRCm39) |
|
probably benign |
Het |
Vmn1r216 |
G |
T |
13: 23,283,880 (GRCm39) |
V188F |
probably damaging |
Het |
Vmn2r27 |
A |
G |
6: 124,201,018 (GRCm39) |
F313S |
probably benign |
Het |
Vmn2r44 |
A |
G |
7: 8,370,805 (GRCm39) |
F747S |
probably damaging |
Het |
Vmn2r95 |
T |
C |
17: 18,661,738 (GRCm39) |
S495P |
probably damaging |
Het |
Xpo5 |
C |
T |
17: 46,547,838 (GRCm39) |
|
probably benign |
Het |
Zscan20 |
A |
C |
4: 128,479,480 (GRCm39) |
C1004G |
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 |
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 |
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 |
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'- ATCAGAGAAGCTCTTGGGCTC -3'
(R):5'- ACCTAGATCTCTGGAAGCGAG -3'
Sequencing Primer
(F):5'- AAGCTCTTGGGCTCGTCTTTAATG -3'
(R):5'- AGGGTCCGTAGACTTGAGCATC -3'
|
Posted On |
2021-03-08 |