Incidental Mutation 'R4595:Nhsl1'
| ID |
344331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS-like 1 |
| Synonyms |
5730409E15Rik, D10Bwg0940e, A630035H13Rik |
| 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 |
18318985-18533892 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18527609 bp (GRCm38)
|
| 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: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,890,052 (GRCm38) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,113,064 (GRCm38) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm38) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,289,748 (GRCm38) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,158,428 (GRCm38) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,198,922 (GRCm38) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm38) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm38) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,641,234 (GRCm38) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,652,404 (GRCm38) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,721,229 (GRCm38) |
V212A |
probably damaging |
Het |
| Col9a2 |
A |
T |
4: 121,045,155 (GRCm38) |
K196N |
probably benign |
Het |
| Copg2 |
T |
C |
6: 30,749,450 (GRCm38) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 39,118,893 (GRCm38) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,168,152 (GRCm38) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 65,075,803 (GRCm38) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,404,789 (GRCm38) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,298,724 (GRCm38) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,903,050 (GRCm38) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,315,212 (GRCm38) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,305,810 (GRCm38) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,441,277 (GRCm38) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,081,350 (GRCm38) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,123,956 (GRCm38) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 91,167,664 (GRCm38) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,147,764 (GRCm38) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,865,807 (GRCm38) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,359,397 (GRCm38) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,666 (GRCm38) |
V234A |
probably damaging |
Het |
| Or4a15 |
C |
T |
2: 89,363,325 (GRCm38) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,944,652 (GRCm38) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,640,101 (GRCm38) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,514,515 (GRCm38) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,283,410 (GRCm38) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 99,055,406 (GRCm38) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,542,020 (GRCm38) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,543,608 (GRCm38) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,154,575 (GRCm38) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 86,964,326 (GRCm38) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,857,516 (GRCm38) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 77,019,863 (GRCm38) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,616,889 (GRCm38) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,735,512 (GRCm38) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,967,071 (GRCm38) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,500,442 (GRCm38) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 157,099,339 (GRCm38) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,995,745 (GRCm38) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,729,943 (GRCm38) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 104,265,432 (GRCm38) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,064,417 (GRCm38) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,832,080 (GRCm38) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,958,988 (GRCm38) |
D165G |
probably damaging |
Het |
|
| Other mutations in Nhsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Nhsl1
|
APN |
10 |
18,527,609 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL01121:Nhsl1
|
APN |
10 |
18,511,710 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01775:Nhsl1
|
APN |
10 |
18,524,474 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02143:Nhsl1
|
APN |
10 |
18,511,635 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL02606:Nhsl1
|
APN |
10 |
18,511,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02642:Nhsl1
|
APN |
10 |
18,408,390 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
IGL02866:Nhsl1
|
APN |
10 |
18,527,607 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03263:Nhsl1
|
APN |
10 |
18,498,079 (GRCm38) |
nonsense |
probably null |
|
|
IGL03380:Nhsl1
|
APN |
10 |
18,523,879 (GRCm38) |
nonsense |
probably null |
|
|
PIT4651001:Nhsl1
|
UTSW |
10 |
18,408,435 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,525,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,525,669 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0116:Nhsl1
|
UTSW |
10 |
18,525,242 (GRCm38) |
nonsense |
probably null |
|
|
R0245:Nhsl1
|
UTSW |
10 |
18,525,108 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0254:Nhsl1
|
UTSW |
10 |
18,472,985 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0288:Nhsl1
|
UTSW |
10 |
18,524,046 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0648:Nhsl1
|
UTSW |
10 |
18,531,726 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1055:Nhsl1
|
UTSW |
10 |
18,525,475 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1300:Nhsl1
|
UTSW |
10 |
18,408,461 (GRCm38) |
missense |
probably benign |
|
|
R1384:Nhsl1
|
UTSW |
10 |
18,408,513 (GRCm38) |
missense |
probably null |
0.96 |
|
R1453:Nhsl1
|
UTSW |
10 |
18,531,575 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1523:Nhsl1
|
UTSW |
10 |
18,408,355 (GRCm38) |
missense |
probably benign |
|
|
R1595:Nhsl1
|
UTSW |
10 |
18,526,348 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1786:Nhsl1
|
UTSW |
10 |
18,524,664 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1836:Nhsl1
|
UTSW |
10 |
18,524,905 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1878:Nhsl1
|
UTSW |
10 |
18,524,279 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2013:Nhsl1
|
UTSW |
10 |
18,511,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2014:Nhsl1
|
UTSW |
10 |
18,511,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2015:Nhsl1
|
UTSW |
10 |
18,511,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3115:Nhsl1
|
UTSW |
10 |
18,525,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3116:Nhsl1
|
UTSW |
10 |
18,525,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3754:Nhsl1
|
UTSW |
10 |
18,516,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4342:Nhsl1
|
UTSW |
10 |
18,526,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Nhsl1
|
UTSW |
10 |
18,531,410 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4666:Nhsl1
|
UTSW |
10 |
18,531,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5223:Nhsl1
|
UTSW |
10 |
18,526,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5258:Nhsl1
|
UTSW |
10 |
18,524,322 (GRCm38) |
nonsense |
probably null |
|
|
R5707:Nhsl1
|
UTSW |
10 |
18,526,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5796:Nhsl1
|
UTSW |
10 |
18,524,250 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5960:Nhsl1
|
UTSW |
10 |
18,526,976 (GRCm38) |
missense |
probably benign |
|
|
R6190:Nhsl1
|
UTSW |
10 |
18,470,041 (GRCm38) |
intron |
probably benign |
|
|
R6272:Nhsl1
|
UTSW |
10 |
18,524,505 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6677:Nhsl1
|
UTSW |
10 |
18,525,862 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6714:Nhsl1
|
UTSW |
10 |
18,524,711 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R6765:Nhsl1
|
UTSW |
10 |
18,531,314 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6892:Nhsl1
|
UTSW |
10 |
18,524,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7049:Nhsl1
|
UTSW |
10 |
18,531,638 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7060:Nhsl1
|
UTSW |
10 |
18,526,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7236:Nhsl1
|
UTSW |
10 |
18,525,764 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7299:Nhsl1
|
UTSW |
10 |
18,527,671 (GRCm38) |
splice site |
probably null |
|
|
R7305:Nhsl1
|
UTSW |
10 |
18,531,686 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7513:Nhsl1
|
UTSW |
10 |
18,523,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7566:Nhsl1
|
UTSW |
10 |
18,516,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8008:Nhsl1
|
UTSW |
10 |
18,408,438 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8135:Nhsl1
|
UTSW |
10 |
18,531,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8240:Nhsl1
|
UTSW |
10 |
18,526,739 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8391:Nhsl1
|
UTSW |
10 |
18,524,943 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R8396:Nhsl1
|
UTSW |
10 |
18,525,162 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8752:Nhsl1
|
UTSW |
10 |
18,531,365 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9022:Nhsl1
|
UTSW |
10 |
18,527,661 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9087:Nhsl1
|
UTSW |
10 |
18,531,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9360:Nhsl1
|
UTSW |
10 |
18,319,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9396:Nhsl1
|
UTSW |
10 |
18,524,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9665:Nhsl1
|
UTSW |
10 |
18,525,851 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R9673:Nhsl1
|
UTSW |
10 |
18,526,917 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1177:Nhsl1
|
UTSW |
10 |
18,526,589 (GRCm38) |
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 |
Incidental Mutation