Incidental Mutation 'R7513:Nhsl1'
| ID |
582231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
045586-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18399700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037341
AA Change: S279P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: S279P
| 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 damaging
Transcript: ENSMUST00000100054
AA Change: S275P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: S275P
| 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: ENSMUST00000162891
AA Change: S275P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: S275P
| 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 damaging
Transcript: ENSMUST00000207038
AA Change: S309P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,771 (GRCm39) |
W694* |
probably null |
Het |
| Accs |
T |
C |
2: 93,670,437 (GRCm39) |
N256S |
possibly damaging |
Het |
| Agmo |
C |
T |
12: 37,294,352 (GRCm39) |
T100I |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,670 (GRCm39) |
D341G |
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,409,911 (GRCm39) |
E345V |
possibly damaging |
Het |
| Arl5a |
A |
G |
2: 52,302,157 (GRCm39) |
F86L |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,686,057 (GRCm39) |
E211G |
probably benign |
Het |
| B020011L13Rik |
T |
A |
1: 117,729,149 (GRCm39) |
C219S |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,803 (GRCm39) |
L579Q |
probably benign |
Het |
| Cd84 |
T |
A |
1: 171,712,185 (GRCm39) |
V267E |
probably benign |
Het |
| Cdcp3 |
G |
A |
7: 130,873,800 (GRCm39) |
G1709R |
unknown |
Het |
| Clec11a |
T |
C |
7: 43,955,780 (GRCm39) |
E89G |
probably benign |
Het |
| Csrnp2 |
C |
A |
15: 100,380,297 (GRCm39) |
E331D |
probably benign |
Het |
| Cyp2d12 |
C |
A |
15: 82,442,621 (GRCm39) |
H355N |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,385,365 (GRCm39) |
G413* |
probably null |
Het |
| Dhx38 |
G |
A |
8: 110,287,221 (GRCm39) |
P249L |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,149,069 (GRCm39) |
M233K |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,105,629 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,692,242 (GRCm39) |
S1003P |
unknown |
Het |
| Dna2 |
A |
G |
10: 62,807,747 (GRCm39) |
D1033G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,370,561 (GRCm39) |
S2834P |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,163,506 (GRCm39) |
S437A |
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,506,686 (GRCm39) |
I93F |
probably damaging |
Het |
| Fbxo47 |
A |
G |
11: 97,747,055 (GRCm39) |
F337S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,546,941 (GRCm39) |
I1086T |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,523,220 (GRCm39) |
R497* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,887,705 (GRCm39) |
D2453A |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,252,471 (GRCm39) |
L27Q |
|
Het |
| Jak1 |
C |
T |
4: 101,048,848 (GRCm39) |
C10Y |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,360,776 (GRCm39) |
N200Y |
possibly damaging |
Het |
| Ktn1 |
G |
C |
14: 47,901,541 (GRCm39) |
A100P |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,843,497 (GRCm39) |
D136G |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,046,683 (GRCm39) |
L648P |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,294,952 (GRCm39) |
I3116V |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,128 (GRCm39) |
D418V |
probably damaging |
Het |
| Mrpl24 |
A |
T |
3: 87,829,734 (GRCm39) |
T107S |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,394,382 (GRCm39) |
D296V |
probably damaging |
Het |
| Mycn |
C |
A |
12: 12,989,743 (GRCm39) |
A218S |
probably benign |
Het |
| Myo1f |
G |
T |
17: 33,794,788 (GRCm39) |
W9C |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,635 (GRCm39) |
K1074N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,483 (GRCm39) |
F61S |
possibly damaging |
Het |
| Or5k16 |
T |
A |
16: 58,736,295 (GRCm39) |
K236N |
probably damaging |
Het |
| Pam |
G |
A |
1: 97,780,910 (GRCm39) |
P514S |
possibly damaging |
Het |
| Pcdha4 |
C |
T |
18: 37,086,392 (GRCm39) |
L192F |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,996,397 (GRCm39) |
D800E |
probably benign |
Het |
| Plcg2 |
C |
A |
8: 118,306,592 (GRCm39) |
N315K |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,042,525 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
A |
G |
17: 29,077,781 (GRCm39) |
|
probably benign |
Het |
| Pptc7 |
A |
T |
5: 122,446,192 (GRCm39) |
|
probably null |
Het |
| Psg26 |
G |
T |
7: 18,209,225 (GRCm39) |
S394R |
probably benign |
Het |
| Psmc1 |
C |
A |
12: 100,081,773 (GRCm39) |
T125K |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,067,203 (GRCm39) |
M125L |
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,589,165 (GRCm39) |
Y323H |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,529 (GRCm39) |
R191Q |
probably benign |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Sirpb1b |
C |
A |
3: 15,607,200 (GRCm39) |
E361* |
probably null |
Het |
| Slc13a4 |
A |
T |
6: 35,260,272 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,909 (GRCm39) |
S1140P |
probably damaging |
Het |
| Spata31e4 |
T |
A |
13: 50,856,909 (GRCm39) |
I849N |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,084 (GRCm39) |
N305D |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,942,727 (GRCm39) |
A1314V |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,866,324 (GRCm39) |
T81A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,085,399 (GRCm39) |
V839A |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,837,492 (GRCm39) |
I606T |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,741,507 (GRCm39) |
M158L |
probably benign |
Het |
| Trpc2 |
A |
T |
7: 101,739,275 (GRCm39) |
M549L |
probably damaging |
Het |
| Trpm5 |
C |
T |
7: 142,635,572 (GRCm39) |
R600Q |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,131,367 (GRCm39) |
N302D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,681,940 (GRCm39) |
R1019H |
|
Het |
| Ttn |
G |
T |
2: 76,775,307 (GRCm39) |
H1958N |
unknown |
Het |
| Usp32 |
A |
T |
11: 84,917,938 (GRCm39) |
Y769* |
probably null |
Het |
| Vim |
A |
T |
2: 13,583,443 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,994 (GRCm39) |
H233R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,108 (GRCm39) |
H1116Q |
possibly damaging |
Het |
| Zc3h18 |
G |
T |
8: 123,134,993 (GRCm39) |
R580L |
unknown |
Het |
| Zfp267 |
T |
A |
3: 36,218,792 (GRCm39) |
F272I |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
| Zfy1 |
A |
T |
Y: 759,852 (GRCm39) |
I20K |
unknown |
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 |
|
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'- AGATAACAGGCCTCTTTCTGC -3'
(R):5'- ATCTTCAGTAGAGCCCAGGG -3'
Sequencing Primer
(F):5'- GATAACAGGCCTCTTTCTGCTTTCTC -3'
(R):5'- CCCTCCAGTGAATAGGTGCTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation