Incidental Mutation 'R5270:Nhsl3'
| ID |
400171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl3
|
| Ensembl Gene |
ENSMUSG00000050390 |
| Gene Name |
NHS like 3 |
| Synonyms |
C77080 |
| MMRRC Submission |
042835-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R5270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129113371-129155194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129118005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 208
(T208A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052602]
[ENSMUST00000097873]
[ENSMUST00000106051]
[ENSMUST00000106054]
[ENSMUST00000145261]
[ENSMUST00000146376]
|
| AlphaFold |
A2A7S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052602
AA Change: T265A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: T265A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1020 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097873
AA Change: T220A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: T220A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
164 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
694 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106051
AA Change: T208A
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: T208A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106054
|
| SMART Domains |
Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1b
|
67 |
358 |
1e-78 |
PFAM |
|
Pfam:tRNA_bind
|
406 |
502 |
7.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146376
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
C |
19: 55,282,650 (GRCm39) |
V585A |
possibly damaging |
Het |
| Adam6a |
A |
T |
12: 113,507,747 (GRCm39) |
H40L |
possibly damaging |
Het |
| Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
| Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,182 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,839,532 (GRCm39) |
S349L |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
| Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
| Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
| M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
| Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
| Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
| Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
| Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,283 (GRCm39) |
M179V |
probably benign |
Het |
| Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
| Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
| Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
probably null |
Het |
|
| Other mutations in Nhsl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01530:Nhsl3
|
APN |
4 |
129,116,589 (GRCm39) |
splice site |
probably null |
|
|
IGL02654:Nhsl3
|
APN |
4 |
129,116,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Nhsl3
|
APN |
4 |
129,117,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03231:Nhsl3
|
APN |
4 |
129,117,474 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL03134:Nhsl3
|
UTSW |
4 |
129,116,280 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0078:Nhsl3
|
UTSW |
4 |
129,121,516 (GRCm39) |
splice site |
probably null |
|
|
R0418:Nhsl3
|
UTSW |
4 |
129,117,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1374:Nhsl3
|
UTSW |
4 |
129,116,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1632:Nhsl3
|
UTSW |
4 |
129,116,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1735:Nhsl3
|
UTSW |
4 |
129,117,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Nhsl3
|
UTSW |
4 |
129,119,810 (GRCm39) |
splice site |
probably benign |
|
|
R2018:Nhsl3
|
UTSW |
4 |
129,116,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2157:Nhsl3
|
UTSW |
4 |
129,117,917 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2201:Nhsl3
|
UTSW |
4 |
129,116,432 (GRCm39) |
missense |
probably benign |
|
|
R2316:Nhsl3
|
UTSW |
4 |
129,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Nhsl3
|
UTSW |
4 |
129,118,115 (GRCm39) |
unclassified |
probably benign |
|
|
R4648:Nhsl3
|
UTSW |
4 |
129,115,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:Nhsl3
|
UTSW |
4 |
129,117,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Nhsl3
|
UTSW |
4 |
129,118,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Nhsl3
|
UTSW |
4 |
129,116,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5272:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5273:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5314:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5548:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
|
R5752:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
|
R5908:Nhsl3
|
UTSW |
4 |
129,115,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5960:Nhsl3
|
UTSW |
4 |
129,115,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Nhsl3
|
UTSW |
4 |
129,119,201 (GRCm39) |
missense |
probably null |
0.73 |
|
R7296:Nhsl3
|
UTSW |
4 |
129,119,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Nhsl3
|
UTSW |
4 |
129,115,835 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7638:Nhsl3
|
UTSW |
4 |
129,115,734 (GRCm39) |
missense |
probably benign |
|
|
R7689:Nhsl3
|
UTSW |
4 |
129,117,566 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7819:Nhsl3
|
UTSW |
4 |
129,116,276 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8213:Nhsl3
|
UTSW |
4 |
129,115,252 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8219:Nhsl3
|
UTSW |
4 |
129,141,946 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8348:Nhsl3
|
UTSW |
4 |
129,117,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Nhsl3
|
UTSW |
4 |
129,117,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8788:Nhsl3
|
UTSW |
4 |
129,119,743 (GRCm39) |
missense |
probably benign |
|
|
R9252:Nhsl3
|
UTSW |
4 |
129,117,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9652:Nhsl3
|
UTSW |
4 |
129,117,962 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Nhsl3
|
UTSW |
4 |
129,116,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nhsl3
|
UTSW |
4 |
129,117,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGACATGGCTGGGCTCAG -3'
(R):5'- CATGACTCATTTCCCAAATCTGG -3'
Sequencing Primer
(F):5'- TCAGTGGCTCTGGAGATCC -3'
(R):5'- CCTCAGCACGTGCAGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation