Incidental Mutation 'R4595:Nhsl1'
ID |
344331 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
041811-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4595 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18403357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1329
(D1329E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
AlphaFold |
Q8CAF4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037341
AA Change: D1333E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: D1333E
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: D1329E
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: D1329E
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 benign
Transcript: ENSMUST00000207038
AA Change: D1363E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
Meta Mutation Damage Score |
0.0575 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
94% (62/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
4921536K21Rik |
A |
G |
11: 3,840,052 (GRCm39) |
I115T |
probably benign |
Het |
Acads |
A |
T |
5: 115,251,123 (GRCm39) |
N120K |
probably damaging |
Het |
Aco1 |
T |
A |
4: 40,167,139 (GRCm39) |
C118S |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,422,819 (GRCm39) |
T1493A |
probably damaging |
Het |
AU018091 |
A |
G |
7: 3,208,268 (GRCm39) |
Y480H |
possibly damaging |
Het |
Brd4 |
A |
T |
17: 32,417,896 (GRCm39) |
I86N |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,945,023 (GRCm39) |
E1477G |
probably damaging |
Het |
Ccne2 |
A |
G |
4: 11,202,986 (GRCm39) |
N368S |
probably benign |
Het |
Cenpp |
A |
T |
13: 49,794,710 (GRCm39) |
F152L |
probably benign |
Het |
Cfap46 |
T |
A |
7: 139,232,320 (GRCm39) |
D881V |
possibly damaging |
Het |
Chmp7 |
A |
G |
14: 69,958,678 (GRCm39) |
V212A |
probably damaging |
Het |
Col9a2 |
A |
T |
4: 120,902,352 (GRCm39) |
K196N |
probably benign |
Het |
Copg2 |
T |
C |
6: 30,749,449 (GRCm39) |
D814G |
probably damaging |
Het |
Dcaf13 |
G |
A |
15: 38,982,288 (GRCm39) |
G85R |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 66,058,978 (GRCm39) |
S106P |
probably benign |
Het |
Dpp8 |
A |
G |
9: 64,983,085 (GRCm39) |
D739G |
probably damaging |
Het |
Drd2 |
T |
A |
9: 49,316,089 (GRCm39) |
M283K |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,207,159 (GRCm39) |
T208A |
probably benign |
Het |
Glul |
G |
A |
1: 153,778,796 (GRCm39) |
G35D |
possibly damaging |
Het |
Gm14412 |
T |
C |
2: 177,007,005 (GRCm39) |
K297E |
unknown |
Het |
Gm21976 |
A |
T |
13: 98,442,318 (GRCm39) |
R120W |
probably damaging |
Het |
Hipk3 |
T |
A |
2: 104,271,622 (GRCm39) |
T437S |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lipn |
T |
G |
19: 34,058,750 (GRCm39) |
Y321D |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,152,810 (GRCm39) |
V484A |
probably benign |
Het |
Madd |
T |
C |
2: 90,998,009 (GRCm39) |
D673G |
possibly damaging |
Het |
Marveld1 |
T |
A |
19: 42,136,203 (GRCm39) |
L39Q |
probably damaging |
Het |
Mfsd2b |
T |
C |
12: 4,915,807 (GRCm39) |
T299A |
possibly damaging |
Het |
Micu3 |
T |
C |
8: 40,812,438 (GRCm39) |
|
probably benign |
Het |
Mmp7 |
T |
C |
9: 7,697,667 (GRCm39) |
V234A |
probably damaging |
Het |
Or4a15 |
C |
T |
2: 89,193,669 (GRCm39) |
V35M |
probably damaging |
Het |
Or4f14b |
T |
C |
2: 111,774,997 (GRCm39) |
D268G |
possibly damaging |
Het |
Or52a33 |
A |
G |
7: 103,289,308 (GRCm39) |
F13S |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,647,568 (GRCm39) |
D232E |
probably damaging |
Het |
Pebp1 |
G |
T |
5: 117,421,475 (GRCm39) |
D156E |
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,937,459 (GRCm39) |
Y745H |
possibly damaging |
Het |
Pld2 |
T |
C |
11: 70,432,846 (GRCm39) |
L170P |
probably damaging |
Het |
Ptch1 |
T |
C |
13: 63,691,422 (GRCm39) |
D277G |
possibly damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,644,603 (GRCm39) |
M394K |
probably damaging |
Het |
Rhoq |
T |
C |
17: 87,271,754 (GRCm39) |
Y57H |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,731 (GRCm39) |
I979V |
probably benign |
Het |
Slc6a4 |
A |
G |
11: 76,910,689 (GRCm39) |
I447V |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,663,663 (GRCm39) |
K607R |
probably damaging |
Het |
Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
Syne2 |
A |
T |
12: 76,013,845 (GRCm39) |
Q3012L |
possibly damaging |
Het |
Taf1b |
T |
A |
12: 24,550,441 (GRCm39) |
F9I |
possibly damaging |
Het |
Tex35 |
T |
A |
1: 156,926,909 (GRCm39) |
Y195F |
probably benign |
Het |
Tnc |
T |
C |
4: 63,913,982 (GRCm39) |
T1277A |
probably damaging |
Het |
Tnfsf15 |
G |
T |
4: 63,648,180 (GRCm39) |
Y153* |
probably null |
Het |
Trim5 |
C |
A |
7: 103,914,639 (GRCm39) |
V477F |
probably damaging |
Het |
Trp73 |
A |
G |
4: 154,148,874 (GRCm39) |
I245T |
probably damaging |
Het |
Zbtb16 |
C |
T |
9: 48,743,380 (GRCm39) |
E311K |
possibly damaging |
Het |
Zmynd19 |
A |
G |
2: 24,849,000 (GRCm39) |
D165G |
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 |
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'- GCGAGTATCATTTCTACCTCAGG -3'
(R):5'- TAAACGAACCGTGGCTAGCC -3'
Sequencing Primer
(F):5'- CATGGTTCTCACACTGTCGGAAATG -3'
(R):5'- TGGCTAGCCAACAGACAAAAC -3'
|
Posted On |
2015-09-25 |