Incidental Mutation 'R2013:Nhsl1'
ID |
222384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
040022-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2013 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 18387340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 205
(R205W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
AlphaFold |
Q8CAF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037341
AA Change: R175W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: R175W
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: R127W
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: R127W
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 |
noncoding transcript
Transcript: ENSMUST00000160602
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162891
AA Change: R127W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124072 Gene: ENSMUSG00000039835 AA Change: R127W
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: R205W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0963 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
G |
17: 48,347,723 (GRCm39) |
T194P |
possibly damaging |
Het |
4921504E06Rik |
T |
A |
2: 19,545,124 (GRCm39) |
M110L |
probably benign |
Het |
Acad9 |
T |
G |
3: 36,127,737 (GRCm39) |
I113R |
probably damaging |
Het |
Adam34l |
T |
C |
8: 44,079,442 (GRCm39) |
S261G |
possibly damaging |
Het |
Adamts6 |
A |
T |
13: 104,450,812 (GRCm39) |
I332F |
probably damaging |
Het |
Adcy8 |
C |
T |
15: 64,639,727 (GRCm39) |
G678S |
probably benign |
Het |
Afg3l2 |
C |
T |
18: 67,564,842 (GRCm39) |
V211I |
probably damaging |
Het |
Ahnak |
T |
C |
19: 8,991,937 (GRCm39) |
I4407T |
probably damaging |
Het |
Alpl |
G |
T |
4: 137,482,458 (GRCm39) |
H79N |
probably benign |
Het |
Apc |
A |
G |
18: 34,448,644 (GRCm39) |
I1813V |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,525,908 (GRCm39) |
M540T |
probably damaging |
Het |
Blm |
T |
C |
7: 80,152,147 (GRCm39) |
E600G |
probably damaging |
Het |
Btbd8 |
T |
C |
5: 107,658,655 (GRCm39) |
W1742R |
probably damaging |
Het |
Cadps |
T |
A |
14: 12,522,337 (GRCm38) |
D609V |
probably damaging |
Het |
Ccdc69 |
C |
T |
11: 54,941,983 (GRCm39) |
M174I |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,913,748 (GRCm39) |
L877* |
probably null |
Het |
Cdk14 |
T |
C |
5: 5,143,047 (GRCm39) |
Y228C |
probably damaging |
Het |
Dip2c |
C |
T |
13: 9,617,882 (GRCm39) |
Q426* |
probably null |
Het |
Dsp |
A |
G |
13: 38,375,434 (GRCm39) |
N1073S |
probably damaging |
Het |
Epyc |
T |
C |
10: 97,511,655 (GRCm39) |
I216T |
probably damaging |
Het |
Erbin |
A |
G |
13: 103,994,041 (GRCm39) |
S300P |
probably damaging |
Het |
Ercc3 |
A |
G |
18: 32,381,482 (GRCm39) |
T433A |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,243,026 (GRCm39) |
T80A |
probably damaging |
Het |
Foxm1 |
T |
A |
6: 128,352,465 (GRCm39) |
|
probably null |
Het |
Gaa |
A |
G |
11: 119,175,409 (GRCm39) |
|
probably null |
Het |
H2-Q4 |
A |
G |
17: 35,599,526 (GRCm39) |
E203G |
probably damaging |
Het |
Helt |
T |
C |
8: 46,745,355 (GRCm39) |
D214G |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,063,599 (GRCm39) |
V487A |
probably benign |
Het |
Hmmr |
A |
T |
11: 40,619,259 (GRCm39) |
S74T |
possibly damaging |
Het |
Hspa9 |
A |
T |
18: 35,079,701 (GRCm39) |
Y243N |
probably damaging |
Het |
Htt |
T |
G |
5: 35,010,215 (GRCm39) |
L1556R |
probably damaging |
Het |
Ift80 |
T |
C |
3: 68,898,117 (GRCm39) |
K73E |
possibly damaging |
Het |
Il6st |
G |
A |
13: 112,635,423 (GRCm39) |
A551T |
probably null |
Het |
Kdm5a |
T |
C |
6: 120,408,951 (GRCm39) |
S1545P |
probably benign |
Het |
Lef1 |
T |
A |
3: 130,905,236 (GRCm39) |
I39N |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrp6 |
A |
G |
6: 134,457,337 (GRCm39) |
|
probably null |
Het |
Macf1 |
T |
C |
4: 123,577,807 (GRCm39) |
D59G |
probably damaging |
Het |
Maged1 |
T |
C |
X: 93,580,523 (GRCm39) |
Y636C |
possibly damaging |
Het |
Mamdc4 |
T |
A |
2: 25,453,584 (GRCm39) |
D1195V |
probably damaging |
Het |
Mob3b |
A |
G |
4: 35,083,922 (GRCm39) |
V89A |
probably benign |
Het |
Mogs |
C |
T |
6: 83,094,631 (GRCm39) |
R483* |
probably null |
Het |
Mybphl |
A |
C |
3: 108,282,718 (GRCm39) |
T203P |
probably benign |
Het |
Myo15a |
A |
G |
11: 60,385,057 (GRCm39) |
T1720A |
probably damaging |
Het |
Myo16 |
T |
A |
8: 10,552,796 (GRCm39) |
F945I |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,463,139 (GRCm39) |
L1309F |
probably benign |
Het |
Nes |
A |
G |
3: 87,883,985 (GRCm39) |
Q748R |
possibly damaging |
Het |
Nlrc3 |
A |
C |
16: 3,782,974 (GRCm39) |
L161R |
probably damaging |
Het |
Npy2r |
T |
A |
3: 82,448,487 (GRCm39) |
D96V |
probably damaging |
Het |
Or4d11 |
T |
A |
19: 12,013,518 (GRCm39) |
E196V |
probably damaging |
Het |
Or5w18 |
T |
G |
2: 87,632,847 (GRCm39) |
V38G |
probably damaging |
Het |
Pappa2 |
C |
T |
1: 158,662,498 (GRCm39) |
C1159Y |
probably damaging |
Het |
Phf21a |
T |
C |
2: 92,058,828 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
T |
A |
7: 115,950,166 (GRCm39) |
|
probably null |
Het |
Psg22 |
A |
T |
7: 18,453,560 (GRCm39) |
Y85F |
possibly damaging |
Het |
Pttg1ip2 |
T |
A |
5: 5,505,964 (GRCm39) |
I106L |
probably benign |
Het |
Qtrt2 |
A |
G |
16: 43,689,455 (GRCm39) |
I181T |
probably damaging |
Het |
Sash1 |
A |
T |
10: 8,605,177 (GRCm39) |
V1071D |
probably benign |
Het |
Scn10a |
A |
T |
9: 119,442,802 (GRCm39) |
I1481N |
probably damaging |
Het |
Slc15a1 |
G |
A |
14: 121,713,399 (GRCm39) |
A376V |
possibly damaging |
Het |
Slc25a46 |
A |
T |
18: 31,742,778 (GRCm39) |
H29Q |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,459,832 (GRCm39) |
C1354R |
probably damaging |
Het |
Ssu2 |
C |
T |
6: 112,360,902 (GRCm39) |
E52K |
possibly damaging |
Het |
Taar7e |
A |
T |
10: 23,913,732 (GRCm39) |
H74L |
possibly damaging |
Het |
Tcte1 |
A |
T |
17: 45,852,237 (GRCm39) |
N490I |
probably benign |
Het |
Tent4b |
T |
A |
8: 88,972,223 (GRCm39) |
|
probably null |
Het |
Tpst2 |
G |
T |
5: 112,455,880 (GRCm39) |
G140C |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,803,981 (GRCm39) |
F1634I |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,761,600 (GRCm39) |
F1017L |
probably damaging |
Het |
Utp18 |
A |
G |
11: 93,766,948 (GRCm39) |
V253A |
possibly damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,897,006 (GRCm39) |
T118A |
probably benign |
Het |
Vmn2r14 |
T |
C |
5: 109,369,109 (GRCm39) |
T155A |
probably benign |
Het |
Vmn2r19 |
T |
A |
6: 123,292,954 (GRCm39) |
M332K |
probably benign |
Het |
Vmn2r71 |
T |
A |
7: 85,269,845 (GRCm39) |
M452K |
probably benign |
Het |
Vmn2r79 |
T |
G |
7: 86,653,289 (GRCm39) |
L518R |
possibly damaging |
Het |
Vps13b |
T |
C |
15: 35,607,288 (GRCm39) |
S1074P |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,835,078 (GRCm39) |
S2757P |
probably damaging |
Het |
Wdr33 |
C |
A |
18: 32,022,029 (GRCm39) |
Q860K |
unknown |
Het |
Zfp423 |
T |
A |
8: 88,509,025 (GRCm39) |
I440F |
probably benign |
Het |
Zup1 |
A |
G |
10: 33,805,820 (GRCm39) |
V437A |
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 |
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 |
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'- GGCAGGGTGGATCATACATGTG -3'
(R):5'- AAAGTCACCAGTGCTCTCCC -3'
Sequencing Primer
(F):5'- CATGTGGAATGTCATATGCAAGAG -3'
(R):5'- AAGGCCATCCTGACTGTCC -3'
|
Posted On |
2014-08-25 |