Incidental Mutation 'R7060:Nhsl1'
| ID |
548201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
045157-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7060 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18402251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1159
(T1159M)
|
| 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: T1129M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: T1129M
| 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: T1125M
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: T1125M
| 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 benign
Transcript: ENSMUST00000162891
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
| 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: T1159M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (78/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,186,425 (GRCm39) |
T535S |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 58,970,712 (GRCm39) |
R99* |
probably null |
Het |
| Alg6 |
C |
T |
4: 99,650,198 (GRCm39) |
L473F |
possibly damaging |
Het |
| Ankar |
A |
T |
1: 72,695,272 (GRCm39) |
N893K |
probably benign |
Het |
| Ankrd54 |
G |
A |
15: 78,939,739 (GRCm39) |
A183V |
possibly damaging |
Het |
| Anpep |
G |
T |
7: 79,491,542 (GRCm39) |
T153K |
probably benign |
Het |
| Arap1 |
A |
G |
7: 101,058,564 (GRCm39) |
|
probably null |
Het |
| Aspg |
A |
T |
12: 112,089,387 (GRCm39) |
T392S |
probably benign |
Het |
| B230307C23Rik |
A |
C |
16: 97,811,331 (GRCm39) |
R68S |
probably benign |
Het |
| Bdp1 |
G |
C |
13: 100,196,002 (GRCm39) |
N1253K |
probably damaging |
Het |
| Ccrl2 |
G |
A |
9: 110,884,682 (GRCm39) |
S272F |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,398,205 (GRCm39) |
L974P |
probably damaging |
Het |
| Celsr1 |
C |
A |
15: 85,916,856 (GRCm39) |
E372D |
probably benign |
Het |
| Cers1 |
A |
T |
8: 70,768,555 (GRCm39) |
M16L |
possibly damaging |
Het |
| Col2a1 |
G |
T |
15: 97,874,022 (GRCm39) |
Q1387K |
unknown |
Het |
| Ddx39b |
G |
A |
17: 35,471,726 (GRCm39) |
V291M |
probably damaging |
Het |
| Dppa2 |
T |
A |
16: 48,136,076 (GRCm39) |
S143T |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,334,419 (GRCm39) |
M583K |
possibly damaging |
Het |
| Eno3 |
A |
T |
11: 70,552,245 (GRCm39) |
D299V |
possibly damaging |
Het |
| Epha8 |
C |
T |
4: 136,658,469 (GRCm39) |
V969M |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,791,358 (GRCm39) |
H873L |
probably benign |
Het |
| Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
| Fntb |
A |
C |
12: 76,934,649 (GRCm39) |
N173T |
possibly damaging |
Het |
| Gins2 |
T |
A |
8: 121,308,880 (GRCm39) |
M125L |
probably benign |
Het |
| Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
| Herpud1 |
C |
A |
8: 95,117,391 (GRCm39) |
H116N |
probably benign |
Het |
| Hoga1 |
C |
A |
19: 42,048,685 (GRCm39) |
Y134* |
probably null |
Het |
| Il10ra |
A |
G |
9: 45,167,522 (GRCm39) |
I343T |
probably benign |
Het |
| Inava |
T |
C |
1: 136,147,935 (GRCm39) |
K339R |
possibly damaging |
Het |
| Inpp5j |
C |
T |
11: 3,450,133 (GRCm39) |
|
probably null |
Het |
| Itpkb |
T |
C |
1: 180,160,695 (GRCm39) |
S274P |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,177,418 (GRCm39) |
C249Y |
probably damaging |
Het |
| Klhl35 |
G |
C |
7: 99,117,665 (GRCm39) |
A70P |
possibly damaging |
Het |
| Lhx1 |
A |
G |
11: 84,411,108 (GRCm39) |
|
probably null |
Het |
| Lmbrd1 |
T |
C |
1: 24,732,047 (GRCm39) |
V88A |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,411,190 (GRCm39) |
L653V |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,007,452 (GRCm39) |
D220G |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,164,371 (GRCm39) |
H300Q |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,169 (GRCm39) |
A363T |
possibly damaging |
Het |
| Mus81 |
G |
T |
19: 5,537,821 (GRCm39) |
D78E |
probably benign |
Het |
| Mxd1 |
A |
T |
6: 86,630,141 (GRCm39) |
L26M |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,165,694 (GRCm39) |
S190P |
possibly damaging |
Het |
| Nwd1 |
A |
C |
8: 73,393,322 (GRCm39) |
D195A |
probably damaging |
Het |
| Or12d13 |
G |
T |
17: 37,647,352 (GRCm39) |
T257N |
probably benign |
Het |
| Or6k4 |
A |
T |
1: 173,964,376 (GRCm39) |
D22V |
probably benign |
Het |
| Or8c14-ps1 |
G |
A |
9: 38,101,392 (GRCm39) |
V124I |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,569 (GRCm39) |
R64S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,545,700 (GRCm39) |
D500G |
possibly damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,339 (GRCm39) |
Y190* |
probably null |
Het |
| Pdcd11 |
C |
T |
19: 47,099,418 (GRCm39) |
T839I |
probably benign |
Het |
| Ppard |
G |
C |
17: 28,517,886 (GRCm39) |
S318T |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,597,970 (GRCm39) |
K178E |
probably damaging |
Het |
| Ppm1n |
G |
T |
7: 19,013,187 (GRCm39) |
R255S |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,887,972 (GRCm39) |
Y693C |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,279 (GRCm39) |
V169E |
possibly damaging |
Het |
| Prc1 |
A |
T |
7: 79,954,121 (GRCm39) |
T53S |
probably benign |
Het |
| Pwp2 |
A |
C |
10: 78,009,084 (GRCm39) |
|
probably null |
Het |
| Rab5c |
G |
A |
11: 100,610,789 (GRCm39) |
R40C |
probably damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,364 (GRCm39) |
C48R |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,604,043 (GRCm39) |
D496G |
probably damaging |
Het |
| Rspo4 |
C |
A |
2: 151,714,998 (GRCm39) |
Q212K |
unknown |
Het |
| Samd9l |
T |
A |
6: 3,372,716 (GRCm39) |
D1515V |
probably damaging |
Het |
| Serinc3 |
T |
C |
2: 163,478,879 (GRCm39) |
T83A |
probably benign |
Het |
| Setd5 |
A |
C |
6: 113,094,343 (GRCm39) |
D420A |
probably damaging |
Het |
| Sidt2 |
T |
C |
9: 45,864,544 (GRCm39) |
T62A |
possibly damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,652,101 (GRCm39) |
V621A |
probably damaging |
Het |
| Srcin1 |
A |
G |
11: 97,464,711 (GRCm39) |
L12P |
probably damaging |
Het |
| Stx18 |
G |
A |
5: 38,278,599 (GRCm39) |
D165N |
possibly damaging |
Het |
| Sumf2 |
A |
G |
5: 129,883,341 (GRCm39) |
K139E |
possibly damaging |
Het |
| Tdo2 |
A |
T |
3: 81,876,866 (GRCm39) |
I102N |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,877,947 (GRCm39) |
S410T |
probably benign |
Het |
| Tmem94 |
A |
T |
11: 115,683,764 (GRCm39) |
I726F |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,742 (GRCm39) |
E1192G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,909,726 (GRCm39) |
I52T |
probably benign |
Het |
| Vmn2r99 |
A |
T |
17: 19,614,826 (GRCm39) |
R849* |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,806,003 (GRCm39) |
K77E |
possibly damaging |
Het |
| Xirp2 |
A |
T |
2: 67,345,952 (GRCm39) |
E2731V |
probably damaging |
Het |
| Zfp1006 |
A |
C |
8: 129,945,613 (GRCm39) |
I404R |
probably benign |
Het |
| Zfp423 |
G |
A |
8: 88,509,507 (GRCm39) |
T258I |
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 |
|
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'- TCACCACAGAAGCTTTGCAG -3'
(R):5'- GGTACCACCAGGAACAGTTTGG -3'
Sequencing Primer
(F):5'- CCACAGAAGCTTTGCAGATGGTG -3'
(R):5'- ACCAGGAACAGTTTGGGCTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation