Incidental Mutation 'R3115:Nhsl1'
| ID |
263985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
040588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 18400916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 714
(Q714L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037341
AA Change: Q684L
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: Q684L
| 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 |
possibly damaging
Transcript: ENSMUST00000100054
AA Change: Q680L
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: Q680L
| 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 |
possibly damaging
Transcript: ENSMUST00000162891
AA Change: Q680L
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: Q680L
| 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: Q714L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.0837 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
96% (47/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,266,653 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,634,755 (GRCm39) |
T170A |
probably benign |
Het |
| Agbl2 |
T |
C |
2: 90,636,245 (GRCm39) |
S594P |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,331 (GRCm39) |
Y113C |
probably damaging |
Het |
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cacng7 |
T |
C |
7: 3,387,450 (GRCm39) |
V111A |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,757,705 (GRCm39) |
T38A |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Dcx |
A |
G |
X: 142,706,105 (GRCm39) |
Y229H |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Glul |
T |
C |
1: 153,783,038 (GRCm39) |
F204L |
possibly damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,822 (GRCm39) |
V631A |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,855,901 (GRCm39) |
Y43F |
possibly damaging |
Het |
| Irs3 |
A |
G |
5: 137,642,118 (GRCm39) |
L440P |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,383,070 (GRCm39) |
D1466G |
possibly damaging |
Het |
| Jarid2 |
T |
C |
13: 45,049,942 (GRCm39) |
S257P |
probably damaging |
Het |
| Knl1 |
C |
A |
2: 118,900,872 (GRCm39) |
L858M |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Lrriq1 |
C |
T |
10: 103,006,294 (GRCm39) |
R1277Q |
probably benign |
Het |
| Mgp |
A |
C |
6: 136,849,683 (GRCm39) |
Y92D |
probably damaging |
Het |
| Micu3 |
A |
G |
8: 40,835,208 (GRCm39) |
H521R |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Moxd1 |
G |
T |
10: 24,177,429 (GRCm39) |
E582* |
probably null |
Het |
| Mprip |
T |
A |
11: 59,656,229 (GRCm39) |
|
probably null |
Het |
| Mybph |
A |
G |
1: 134,122,476 (GRCm39) |
I174V |
probably benign |
Het |
| Mynn |
C |
T |
3: 30,661,959 (GRCm39) |
T347M |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,504 (GRCm38) |
|
probably null |
Het |
| Or10g3 |
T |
C |
14: 52,610,397 (GRCm39) |
T38A |
probably damaging |
Het |
| Or2a5 |
T |
C |
6: 42,873,784 (GRCm39) |
V133A |
probably benign |
Het |
| Or52h9 |
C |
A |
7: 104,202,295 (GRCm39) |
H56Q |
probably benign |
Het |
| Or5p61 |
T |
C |
7: 107,759,029 (GRCm39) |
E17G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Phactr2 |
C |
A |
10: 13,137,645 (GRCm39) |
E166* |
probably null |
Het |
| Prdx4 |
C |
T |
X: 154,113,407 (GRCm39) |
R167Q |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,482,222 (GRCm39) |
L422F |
probably benign |
Het |
| Prph |
T |
A |
15: 98,953,337 (GRCm39) |
F84I |
probably damaging |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb13 |
A |
T |
1: 106,910,568 (GRCm39) |
E64V |
probably null |
Het |
| Slc12a4 |
A |
T |
8: 106,686,091 (GRCm39) |
S81T |
probably damaging |
Het |
| Slc47a1 |
A |
G |
11: 61,258,506 (GRCm39) |
L179P |
possibly damaging |
Het |
| Sp140l2 |
C |
G |
1: 85,235,106 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
C |
1: 28,815,410 (GRCm39) |
V874G |
possibly damaging |
Het |
| Sycp2l |
C |
A |
13: 41,302,274 (GRCm39) |
T456K |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,914,193 (GRCm39) |
L2447P |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,506,900 (GRCm39) |
C614R |
probably damaging |
Het |
| Usp5 |
T |
C |
6: 124,792,560 (GRCm39) |
Y826C |
probably damaging |
Het |
| Vmn2r71 |
A |
C |
7: 85,272,866 (GRCm39) |
D560A |
probably damaging |
Het |
| Wdr91 |
A |
G |
6: 34,882,522 (GRCm39) |
L209P |
probably damaging |
Het |
| Zfp511 |
T |
A |
7: 139,616,504 (GRCm39) |
D46E |
probably benign |
Het |
| Zfp81 |
C |
T |
17: 33,553,537 (GRCm39) |
A426T |
possibly damaging |
Het |
| Zscan22 |
T |
C |
7: 12,641,217 (GRCm39) |
I328T |
probably benign |
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 |
|
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'- TATACTACCACTCACGAGGCTG -3'
(R):5'- GCTACTACCCTCGCTAACAATG -3'
Sequencing Primer
(F):5'- ACTCACGAGGCTGGGAAC -3'
(R):5'- AACAATGCTCTGGCTTCTGGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation