Incidental Mutation 'R0288:Nhsl1'
| ID |
24737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
038507-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0288 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18399794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 306
(D306G)
|
| 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: D310G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: D310G
| 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: D306G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: D306G
| 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 |
probably damaging
Transcript: ENSMUST00000162891
AA Change: D306G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: D306G
| 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: D340G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0974 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.7%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
G |
8: 95,766,568 (GRCm39) |
E413G |
possibly damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,560 (GRCm39) |
N287K |
probably damaging |
Het |
| Ankle2 |
T |
A |
5: 110,384,256 (GRCm39) |
I260K |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,040,779 (GRCm39) |
R635* |
probably null |
Het |
| Camkv |
A |
G |
9: 107,823,555 (GRCm39) |
Y153C |
probably damaging |
Het |
| Capn9 |
A |
G |
8: 125,327,230 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
A |
G |
8: 105,576,376 (GRCm39) |
I130V |
probably benign |
Het |
| Cfap44 |
T |
A |
16: 44,236,257 (GRCm39) |
|
probably benign |
Het |
| Cfhr3 |
A |
G |
1: 139,525,425 (GRCm39) |
|
noncoding transcript |
Het |
| Chmp1a |
G |
T |
8: 123,934,745 (GRCm39) |
D70E |
probably damaging |
Het |
| Coil |
G |
A |
11: 88,872,694 (GRCm39) |
G352R |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,265,949 (GRCm39) |
E188G |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,144,799 (GRCm39) |
F685S |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,711,410 (GRCm39) |
N519S |
probably benign |
Het |
| Dennd1c |
A |
T |
17: 57,383,870 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,915,960 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
T |
C |
19: 43,890,898 (GRCm39) |
T290A |
possibly damaging |
Het |
| Dsc2 |
T |
C |
18: 20,166,177 (GRCm39) |
D818G |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,268,967 (GRCm39) |
V557I |
probably benign |
Het |
| Hdac4 |
A |
T |
1: 91,898,728 (GRCm39) |
H675Q |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,745,764 (GRCm39) |
M35T |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,283,795 (GRCm39) |
I1290N |
probably damaging |
Het |
| Klhl14 |
G |
A |
18: 21,698,620 (GRCm39) |
R398W |
probably damaging |
Het |
| Marveld1 |
T |
C |
19: 42,136,265 (GRCm39) |
F60L |
probably damaging |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,465,843 (GRCm39) |
V43D |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,331,544 (GRCm39) |
V284A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,451 (GRCm39) |
V561A |
probably damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,460,344 (GRCm39) |
I177V |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,373,131 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
A |
C |
15: 79,171,106 (GRCm39) |
|
probably benign |
Het |
| Plekhj1 |
A |
T |
10: 80,632,444 (GRCm39) |
I122N |
probably damaging |
Het |
| Pmel |
T |
C |
10: 128,550,175 (GRCm39) |
I70T |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,383,196 (GRCm39) |
D273G |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,021 (GRCm39) |
I1098V |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,000,025 (GRCm39) |
S1160P |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,125,038 (GRCm39) |
I255V |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 137,994,914 (GRCm39) |
|
probably benign |
Het |
| Slc29a1 |
G |
A |
17: 45,900,730 (GRCm39) |
R111W |
probably damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,109,913 (GRCm39) |
A74T |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,600,046 (GRCm39) |
Y122* |
probably null |
Het |
| Slc6a3 |
G |
T |
13: 73,709,047 (GRCm39) |
G324W |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,486,633 (GRCm39) |
S433P |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,070,745 (GRCm39) |
S2190P |
probably damaging |
Het |
| Sry |
A |
T |
Y: 2,662,818 (GRCm39) |
F281I |
unknown |
Het |
| Stk32a |
T |
A |
18: 43,438,060 (GRCm39) |
|
probably null |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
G |
A |
17: 24,920,781 (GRCm39) |
H612Y |
probably damaging |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
G |
11: 98,907,249 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,333,606 (GRCm39) |
|
probably benign |
Het |
| Vldlr |
G |
A |
19: 27,218,051 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,020 (GRCm39) |
L409P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,648 (GRCm39) |
V1659A |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zfp280d |
A |
T |
9: 72,238,621 (GRCm39) |
K646* |
probably null |
Het |
| Zfp36 |
A |
G |
7: 28,077,666 (GRCm39) |
S81P |
probably benign |
Het |
| Zfp618 |
A |
T |
4: 63,051,171 (GRCm39) |
T651S |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAAGATGATGATGGTAGTGCCC -3'
(R):5'- CGCAAAGTTTTCATGCCCCTGTAAG -3'
Sequencing Primer
(F):5'- CACTACTCTACGTTAGGAAGGCTTG -3'
(R):5'- TGTAAGCTACCCCCCTGG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation