Incidental Mutation 'R8134:Ninl'
| ID |
632148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ninl
|
| Ensembl Gene |
ENSMUSG00000068115 |
| Gene Name |
ninein-like |
| Synonyms |
LOC381388, 4930519N13Rik, LOC381387 |
| MMRRC Submission |
067562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
150776439-150851330 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 150792234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 763
(C763Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109896]
[ENSMUST00000124135]
|
| AlphaFold |
Q6ZQ12 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109896
AA Change: C763Y
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: C763Y
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
12 |
40 |
6.56e0 |
SMART |
|
low complexity region
|
76 |
93 |
N/A |
INTRINSIC |
|
EFh
|
201 |
229 |
4.45e1 |
SMART |
|
EFh
|
238 |
266 |
8.98e-4 |
SMART |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
coiled coil region
|
381 |
423 |
N/A |
INTRINSIC |
|
coiled coil region
|
461 |
517 |
N/A |
INTRINSIC |
|
coiled coil region
|
541 |
584 |
N/A |
INTRINSIC |
|
coiled coil region
|
620 |
699 |
N/A |
INTRINSIC |
|
coiled coil region
|
728 |
751 |
N/A |
INTRINSIC |
|
coiled coil region
|
835 |
863 |
N/A |
INTRINSIC |
|
coiled coil region
|
1058 |
1334 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124135
|
| SMART Domains |
Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
16 |
61 |
N/A |
INTRINSIC |
|
coiled coil region
|
92 |
266 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.5%
- 20x: 93.5%
|
| Validation Efficiency |
99% (71/72) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,425,982 (GRCm39) |
P265L |
probably benign |
Het |
| Adam20 |
A |
G |
8: 41,249,101 (GRCm39) |
T404A |
probably benign |
Het |
| Anp32a |
G |
T |
9: 62,284,863 (GRCm39) |
R237L |
unknown |
Het |
| Ascc3 |
A |
G |
10: 50,643,554 (GRCm39) |
D1835G |
probably benign |
Het |
| Atg9b |
A |
G |
5: 24,590,220 (GRCm39) |
|
probably null |
Het |
| Bard1 |
A |
T |
1: 71,106,297 (GRCm39) |
N443K |
probably damaging |
Het |
| Btnl1 |
A |
G |
17: 34,604,647 (GRCm39) |
D476G |
possibly damaging |
Het |
| C2cd3 |
A |
T |
7: 100,067,711 (GRCm39) |
I487F |
|
Het |
| Cadm4 |
A |
G |
7: 24,203,030 (GRCm39) |
E384G |
possibly damaging |
Het |
| Camsap3 |
A |
G |
8: 3,648,075 (GRCm39) |
K128E |
probably benign |
Het |
| Casz1 |
C |
T |
4: 149,027,492 (GRCm39) |
P1005S |
probably damaging |
Het |
| Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
| Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
| Cfap54 |
A |
T |
10: 92,714,378 (GRCm39) |
V2667D |
unknown |
Het |
| Col11a1 |
A |
G |
3: 114,012,435 (GRCm39) |
K1792E |
unknown |
Het |
| Cpne9 |
A |
T |
6: 113,272,003 (GRCm39) |
D377V |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 15,982,550 (GRCm39) |
C2706S |
probably damaging |
Het |
| Ctnnbl1 |
T |
C |
2: 157,651,391 (GRCm39) |
V222A |
probably benign |
Het |
| Frmpd2 |
T |
C |
14: 33,227,452 (GRCm39) |
S277P |
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,734,884 (GRCm39) |
T158I |
probably benign |
Het |
| Hoxa4 |
G |
T |
6: 52,167,537 (GRCm39) |
H215N |
possibly damaging |
Het |
| Hpd |
G |
T |
5: 123,312,443 (GRCm39) |
Q309K |
probably benign |
Het |
| Il20ra |
A |
G |
10: 19,626,452 (GRCm39) |
T159A |
probably damaging |
Het |
| Ints10 |
T |
A |
8: 69,255,638 (GRCm39) |
Y209* |
probably null |
Het |
| Ints2 |
A |
G |
11: 86,103,486 (GRCm39) |
I1190T |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,872,188 (GRCm39) |
V107A |
probably null |
Het |
| Kdm4d |
C |
T |
9: 14,374,532 (GRCm39) |
R442H |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,413,756 (GRCm39) |
Y134C |
probably benign |
Het |
| Klb |
A |
T |
5: 65,540,958 (GRCm39) |
H1017L |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,481,285 (GRCm39) |
|
probably null |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,503,047 (GRCm39) |
I423M |
probably damaging |
Het |
| Magi2 |
T |
G |
5: 20,596,365 (GRCm39) |
F274L |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,596,392 (GRCm39) |
D283E |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Meis2 |
C |
T |
2: 115,697,369 (GRCm39) |
M388I |
probably benign |
Het |
| Ms4a3 |
G |
C |
19: 11,615,613 (GRCm39) |
H54Q |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,710,585 (GRCm39) |
M548K |
possibly damaging |
Het |
| Numa1 |
T |
C |
7: 101,650,834 (GRCm39) |
F1522L |
probably benign |
Het |
| Or13a25 |
T |
A |
7: 140,247,680 (GRCm39) |
I153N |
possibly damaging |
Het |
| Or2bd2 |
T |
C |
7: 6,441,922 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc3 |
G |
A |
18: 37,939,916 (GRCm39) |
V106I |
probably benign |
Het |
| Phf3 |
A |
G |
1: 30,863,552 (GRCm39) |
V152A |
unknown |
Het |
| Pira1 |
A |
G |
7: 3,738,838 (GRCm39) |
S590P |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,057 (GRCm39) |
D118V |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,097,443 (GRCm39) |
D203G |
probably damaging |
Het |
| Ppip5k2 |
A |
T |
1: 97,672,888 (GRCm39) |
M474K |
probably benign |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,280 (GRCm39) |
E341G |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,615,645 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,592 (GRCm39) |
N324S |
probably damaging |
Het |
| Spaca1 |
T |
A |
4: 34,042,157 (GRCm39) |
|
probably null |
Het |
| Sun3 |
G |
T |
11: 8,979,346 (GRCm39) |
D118E |
probably benign |
Het |
| Svop |
C |
T |
5: 114,180,992 (GRCm39) |
V215I |
probably benign |
Het |
| Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,937,064 (GRCm39) |
I1328N |
probably damaging |
Het |
| Tuba8 |
T |
A |
6: 121,198,381 (GRCm39) |
D116E |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,949,200 (GRCm39) |
I213T |
possibly damaging |
Het |
| Ubqln4 |
G |
A |
3: 88,462,797 (GRCm39) |
|
probably null |
Het |
| Vps13a |
A |
G |
19: 16,631,718 (GRCm39) |
I2639T |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp94 |
A |
T |
7: 24,003,166 (GRCm39) |
V92E |
probably benign |
Het |
|
| Other mutations in Ninl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ninl
|
APN |
2 |
150,808,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01697:Ninl
|
APN |
2 |
150,781,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01756:Ninl
|
APN |
2 |
150,821,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01925:Ninl
|
APN |
2 |
150,812,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02341:Ninl
|
APN |
2 |
150,786,525 (GRCm39) |
nonsense |
probably null |
|
|
IGL02838:Ninl
|
APN |
2 |
150,797,631 (GRCm39) |
splice site |
probably null |
|
|
IGL02868:Ninl
|
APN |
2 |
150,778,974 (GRCm39) |
missense |
probably benign |
|
|
IGL03116:Ninl
|
APN |
2 |
150,806,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03396:Ninl
|
APN |
2 |
150,808,132 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0117:Ninl
|
UTSW |
2 |
150,779,593 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0685:Ninl
|
UTSW |
2 |
150,781,775 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0928:Ninl
|
UTSW |
2 |
150,805,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1051:Ninl
|
UTSW |
2 |
150,812,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1441:Ninl
|
UTSW |
2 |
150,813,044 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1493:Ninl
|
UTSW |
2 |
150,822,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Ninl
|
UTSW |
2 |
150,822,096 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1539:Ninl
|
UTSW |
2 |
150,817,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Ninl
|
UTSW |
2 |
150,806,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Ninl
|
UTSW |
2 |
150,817,763 (GRCm39) |
nonsense |
probably null |
|
|
R2156:Ninl
|
UTSW |
2 |
150,786,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Ninl
|
UTSW |
2 |
150,791,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2373:Ninl
|
UTSW |
2 |
150,822,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3743:Ninl
|
UTSW |
2 |
150,792,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3906:Ninl
|
UTSW |
2 |
150,822,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Ninl
|
UTSW |
2 |
150,794,408 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4283:Ninl
|
UTSW |
2 |
150,795,336 (GRCm39) |
unclassified |
probably benign |
|
|
R4798:Ninl
|
UTSW |
2 |
150,801,801 (GRCm39) |
nonsense |
probably null |
|
|
R4963:Ninl
|
UTSW |
2 |
150,781,829 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4998:Ninl
|
UTSW |
2 |
150,795,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5343:Ninl
|
UTSW |
2 |
150,813,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5810:Ninl
|
UTSW |
2 |
150,792,088 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5825:Ninl
|
UTSW |
2 |
150,782,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6436:Ninl
|
UTSW |
2 |
150,808,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Ninl
|
UTSW |
2 |
150,817,777 (GRCm39) |
nonsense |
probably null |
|
|
R6734:Ninl
|
UTSW |
2 |
150,787,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6997:Ninl
|
UTSW |
2 |
150,808,145 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7135:Ninl
|
UTSW |
2 |
150,797,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7157:Ninl
|
UTSW |
2 |
150,791,263 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7315:Ninl
|
UTSW |
2 |
150,791,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7840:Ninl
|
UTSW |
2 |
150,808,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8319:Ninl
|
UTSW |
2 |
150,801,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Ninl
|
UTSW |
2 |
150,777,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Ninl
|
UTSW |
2 |
150,801,816 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9231:Ninl
|
UTSW |
2 |
150,792,129 (GRCm39) |
missense |
probably benign |
|
|
R9465:Ninl
|
UTSW |
2 |
150,782,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9474:Ninl
|
UTSW |
2 |
150,782,726 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9571:Ninl
|
UTSW |
2 |
150,791,803 (GRCm39) |
missense |
probably benign |
|
|
R9789:Ninl
|
UTSW |
2 |
150,791,701 (GRCm39) |
missense |
probably benign |
0.05 |
|
X0062:Ninl
|
UTSW |
2 |
150,811,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ninl
|
UTSW |
2 |
150,795,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACCTGCAGATCCGTGC -3'
(R):5'- GGCTACAGAAAGAGTCTCTGG -3'
Sequencing Primer
(F):5'- TTCACTCATCACAGCCTGCAG -3'
(R):5'- CTCTGGGTTAGTTACACACTGAGAGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation