Incidental Mutation 'R9771:Ndufb10'
| ID |
733465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufb10
|
| Ensembl Gene |
ENSMUSG00000040048 |
| Gene Name |
NADH:ubiquinone oxidoreductase subunit B10 |
| Synonyms |
0610011B04Rik, 22kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R9771 (G1)
|
| Quality Score |
205.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24941034-24943397 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 24943158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045602]
[ENSMUST00000054289]
[ENSMUST00000135708]
[ENSMUST00000170715]
[ENSMUST00000146867]
[ENSMUST00000152407]
[ENSMUST00000170239]
[ENSMUST00000183214]
|
| AlphaFold |
Q9DCS9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045602
|
| SMART Domains |
Protein: ENSMUSP00000043543
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
42 |
168 |
2.1e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054289
|
| SMART Domains |
Protein: ENSMUSP00000092502
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
5.7e-34 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
2.4e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104521
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129451
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129984
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135708
|
| SMART Domains |
Protein: ENSMUSP00000120091
Gene: ENSMUSG00000040048
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
|
Pfam:NDUFB10
|
54 |
149 |
7.1e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144285
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170715
|
| SMART Domains |
Protein: ENSMUSP00000131474
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
1.1e-31 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146867
|
| SMART Domains |
Protein: ENSMUSP00000120715
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
102 |
166 |
1.7e-35 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
185 |
256 |
8.3e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152407
|
| SMART Domains |
Protein: ENSMUSP00000114529
Gene: ENSMUSG00000044533
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
53 |
N/A |
INTRINSIC |
|
Pfam:Ribosomal_S5
|
101 |
167 |
9.2e-32 |
PFAM |
|
Pfam:Ribosomal_S5_C
|
184 |
257 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170239
|
| SMART Domains |
Protein: ENSMUSP00000129325
Gene: ENSMUSG00000002500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
375 |
1.2e-178 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183214
|
| SMART Domains |
Protein: ENSMUSP00000138489
Gene: ENSMUSG00000002500
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L3
|
1 |
133 |
1.1e-43 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
G |
3: 146,356,743 (GRCm39) |
I55T |
possibly damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,310 (GRCm39) |
T866A |
probably benign |
Het |
| Alg12 |
A |
T |
15: 88,700,373 (GRCm39) |
V21E |
probably damaging |
Het |
| Bod1l |
C |
A |
5: 41,949,206 (GRCm39) |
R2972L |
probably damaging |
Het |
| Card6 |
T |
A |
15: 5,129,693 (GRCm39) |
I568F |
probably benign |
Het |
| Ccdc89 |
A |
G |
7: 90,075,810 (GRCm39) |
T7A |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,573,517 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,855,031 (GRCm39) |
I297M |
probably damaging |
Het |
| Dpysl2 |
T |
C |
14: 67,066,833 (GRCm39) |
E200G |
probably damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,537 (GRCm39) |
S1575P |
probably benign |
Het |
| Gm18596 |
A |
C |
10: 77,577,962 (GRCm39) |
S171A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,718 (GRCm39) |
C278S |
probably benign |
Het |
| Gngt2 |
G |
T |
11: 95,728,124 (GRCm39) |
|
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,268,485 (GRCm39) |
D531N |
probably damaging |
Het |
| Iqgap3 |
C |
A |
3: 88,016,176 (GRCm39) |
F986L |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,569,719 (GRCm39) |
C726R |
probably damaging |
Het |
| Map4k4 |
T |
C |
1: 40,025,877 (GRCm39) |
I289T |
unknown |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,069,914 (GRCm39) |
W312L |
probably damaging |
Het |
| Or11i1 |
A |
T |
3: 106,729,060 (GRCm39) |
Y272N |
possibly damaging |
Het |
| Or1p1c |
G |
A |
11: 74,160,635 (GRCm39) |
R140H |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 114,896,356 (GRCm39) |
R30Q |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,423,771 (GRCm39) |
L878P |
possibly damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,358,883 (GRCm39) |
H364R |
probably benign |
Het |
| Polr1f |
A |
G |
12: 33,487,828 (GRCm39) |
T248A |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,113,365 (GRCm39) |
I231T |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,872,903 (GRCm39) |
R263* |
probably null |
Het |
| Ptprq |
T |
A |
10: 107,521,085 (GRCm39) |
I696F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,082,624 (GRCm39) |
I1341F |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,613,207 (GRCm39) |
Y428C |
probably damaging |
Het |
| Sh3tc1 |
A |
C |
5: 35,873,654 (GRCm39) |
F217C |
probably damaging |
Het |
| Sptb |
G |
A |
12: 76,650,353 (GRCm39) |
T1788I |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,983,048 (GRCm39) |
P672L |
probably damaging |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tada3 |
A |
C |
6: 113,349,319 (GRCm39) |
S244A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,925,600 (GRCm39) |
I979F |
probably damaging |
Het |
| Usp10 |
CAA |
CAAA |
8: 120,658,620 (GRCm39) |
|
probably null |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,657 (GRCm39) |
N73S |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,559 (GRCm39) |
E405G |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,042,079 (GRCm39) |
H212R |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,195 (GRCm39) |
L3015P |
probably damaging |
Het |
| Wdr11 |
T |
C |
7: 129,206,851 (GRCm39) |
S255P |
probably damaging |
Het |
| Ypel3 |
T |
C |
7: 126,379,226 (GRCm39) |
Y100H |
probably damaging |
Het |
|
| Other mutations in Ndufb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Ndufb10
|
APN |
17 |
24,943,158 (GRCm39) |
splice site |
probably null |
|
|
R0157:Ndufb10
|
UTSW |
17 |
24,943,218 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0189:Ndufb10
|
UTSW |
17 |
24,943,209 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0834:Ndufb10
|
UTSW |
17 |
24,941,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1164:Ndufb10
|
UTSW |
17 |
24,941,757 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2015:Ndufb10
|
UTSW |
17 |
24,941,503 (GRCm39) |
splice site |
probably null |
|
|
R4687:Ndufb10
|
UTSW |
17 |
24,941,393 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4995:Ndufb10
|
UTSW |
17 |
24,941,731 (GRCm39) |
splice site |
probably null |
|
|
R5629:Ndufb10
|
UTSW |
17 |
24,941,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Ndufb10
|
UTSW |
17 |
24,941,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8175:Ndufb10
|
UTSW |
17 |
24,943,166 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9087:Ndufb10
|
UTSW |
17 |
24,943,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0024:Ndufb10
|
UTSW |
17 |
24,941,152 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ndufb10
|
UTSW |
17 |
24,941,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGTGGACTATCCTGCGG -3'
(R):5'- GGGAGAGTTTGCTTAAGCCATG -3'
Sequencing Primer
(F):5'- TGATCTGGAGTGACAGCACC -3'
(R):5'- AAGCCATGCCAGATTCTTGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation