Incidental Mutation 'R1334:Nim1k'
| ID |
156823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nim1k
|
| Ensembl Gene |
ENSMUSG00000095930 |
| Gene Name |
NIM1 serine/threonine protein kinase |
| Synonyms |
Nim1, E130304F04Rik |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
120171630-120217418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120174024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 290
(I290T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178142]
[ENSMUST00000179869]
[ENSMUST00000224188]
|
| AlphaFold |
Q8BHI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178142
AA Change: I290T
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136377
Gene: ENSMUSG00000095930
AA Change: I290T
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
74 |
325 |
8.66e-92 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179869
|
| SMART Domains |
Protein: ENSMUSP00000136944
Gene: ENSMUSG00000093930
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HMG_CoA_synt_N
|
13 |
186 |
4e-111 |
PFAM |
|
Pfam:HMG_CoA_synt_C
|
187 |
469 |
4e-134 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224188
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
| Other mutations in Nim1k |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1782:Nim1k
|
UTSW |
13 |
120,173,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2216:Nim1k
|
UTSW |
13 |
120,175,751 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3710:Nim1k
|
UTSW |
13 |
120,173,635 (GRCm39) |
missense |
probably benign |
|
|
R4385:Nim1k
|
UTSW |
13 |
120,174,162 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4430:Nim1k
|
UTSW |
13 |
120,174,078 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4484:Nim1k
|
UTSW |
13 |
120,173,710 (GRCm39) |
nonsense |
probably null |
|
|
R4812:Nim1k
|
UTSW |
13 |
120,173,920 (GRCm39) |
missense |
probably benign |
|
|
R5383:Nim1k
|
UTSW |
13 |
120,189,335 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5436:Nim1k
|
UTSW |
13 |
120,189,065 (GRCm39) |
intron |
probably benign |
|
|
R5511:Nim1k
|
UTSW |
13 |
120,189,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6682:Nim1k
|
UTSW |
13 |
120,173,724 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6922:Nim1k
|
UTSW |
13 |
120,189,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7053:Nim1k
|
UTSW |
13 |
120,189,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Nim1k
|
UTSW |
13 |
120,173,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Nim1k
|
UTSW |
13 |
120,174,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8333:Nim1k
|
UTSW |
13 |
120,174,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Nim1k
|
UTSW |
13 |
120,174,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Nim1k
|
UTSW |
13 |
120,175,807 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8515:Nim1k
|
UTSW |
13 |
120,173,986 (GRCm39) |
nonsense |
probably null |
|
|
R8540:Nim1k
|
UTSW |
13 |
120,175,718 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8915:Nim1k
|
UTSW |
13 |
120,173,874 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9227:Nim1k
|
UTSW |
13 |
120,174,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9416:Nim1k
|
UTSW |
13 |
120,189,362 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Nim1k
|
UTSW |
13 |
120,189,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCAAGACACACCAGCTTTTAGG -3'
(R):5'- TACGCGGCACCAGAACTCTTTC -3'
Sequencing Primer
(F):5'- ATCCCCAAGTGTTCTAAAGTGC -3'
(R):5'- TTCATGGTGACTGGCACGAT -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation