Incidental Mutation 'R5548:Nhsl3'
| ID |
434977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl3
|
| Ensembl Gene |
ENSMUSG00000050390 |
| Gene Name |
NHS like 3 |
| Synonyms |
C77080 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
R5548 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129113371-129155194 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GGTG to GGTGTG
at 129117773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052602]
[ENSMUST00000097873]
[ENSMUST00000106051]
[ENSMUST00000106054]
[ENSMUST00000145261]
[ENSMUST00000146376]
|
| AlphaFold |
A2A7S8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052602
|
| SMART Domains |
Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
| 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 null
Transcript: ENSMUST00000097873
|
| SMART Domains |
Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
| 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 |
probably null
Transcript: ENSMUST00000106051
|
| SMART Domains |
Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8b3b |
T |
C |
9: 38,584,600 (GRCm39) |
I60V |
probably benign |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly damaging |
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 |
|
R5270:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
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 |
|
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'- ACAATGGTCTCGGAGGACTG -3'
(R):5'- CAGATGCAGAGGCTGTCATC -3'
Sequencing Primer
(F):5'- AGAGTGGCTCCAGTTGTCAC -3'
(R):5'- TGTCATCCAGCGCCACATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation