Incidental Mutation 'R6371:Ndufaf1'
| ID |
513508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ndufaf1
|
| Ensembl Gene |
ENSMUSG00000027305 |
| Gene Name |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
| Synonyms |
2410001M24Rik, CIA30, CGI-65 |
| MMRRC Submission |
044521-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.303)
|
| Stock # |
R6371 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119485927-119493302 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119490534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 175
(D175E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028768]
[ENSMUST00000110801]
[ENSMUST00000110802]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028768
AA Change: D177E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028768
Gene: ENSMUSG00000027305
AA Change: D177E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CIA30
|
128 |
301 |
3e-51 |
PFAM |
|
Pfam:CBM_11
|
193 |
315 |
1.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110801
AA Change: D175E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106425
Gene: ENSMUSG00000027305
AA Change: D175E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CIA30
|
126 |
299 |
1.1e-47 |
PFAM |
|
Pfam:CBM_11
|
127 |
312 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110802
AA Change: D175E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106426
Gene: ENSMUSG00000027305
AA Change: D175E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CIA30
|
126 |
299 |
1.1e-47 |
PFAM |
|
Pfam:CBM_11
|
127 |
312 |
1.3e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154127
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
C |
T |
12: 113,453,894 (GRCm39) |
S237L |
probably damaging |
Het |
| Ank3 |
T |
G |
10: 69,644,709 (GRCm39) |
L58V |
probably damaging |
Het |
| Arsb |
A |
T |
13: 93,926,574 (GRCm39) |
I115F |
possibly damaging |
Het |
| Atad2b |
T |
C |
12: 5,023,970 (GRCm39) |
Y32H |
probably damaging |
Het |
| Brd1 |
A |
C |
15: 88,598,201 (GRCm39) |
M515R |
probably benign |
Het |
| Cbx7 |
A |
G |
15: 79,803,023 (GRCm39) |
S30P |
possibly damaging |
Het |
| Cdk12 |
A |
G |
11: 98,136,114 (GRCm39) |
T1123A |
unknown |
Het |
| Cep170b |
A |
G |
12: 112,707,379 (GRCm39) |
D375G |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,390,369 (GRCm39) |
K164E |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,163,459 (GRCm39) |
K677T |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,617,540 (GRCm39) |
I137T |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,802,816 (GRCm39) |
S39P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,143,353 (GRCm39) |
N1318K |
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,098,976 (GRCm39) |
Q820* |
probably null |
Het |
| Fbxl2 |
G |
A |
9: 113,818,451 (GRCm39) |
T170I |
probably damaging |
Het |
| Fyb2 |
A |
G |
4: 104,852,975 (GRCm39) |
T552A |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,762,358 (GRCm39) |
V257A |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,269,006 (GRCm39) |
Y2213H |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,184,986 (GRCm39) |
Y24H |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Itgb2 |
C |
A |
10: 77,384,431 (GRCm39) |
P184H |
probably damaging |
Het |
| Kcnb2 |
T |
A |
1: 15,781,436 (GRCm39) |
D769E |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,741,666 (GRCm39) |
M3087T |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,795,800 (GRCm39) |
|
probably null |
Het |
| Ms4a6b |
A |
G |
19: 11,497,728 (GRCm39) |
E9G |
probably damaging |
Het |
| Nat3 |
G |
A |
8: 67,976,831 (GRCm39) |
|
probably null |
Het |
| Nop58 |
T |
G |
1: 59,750,471 (GRCm39) |
|
probably benign |
Het |
| Or10al6 |
A |
G |
17: 38,083,326 (GRCm39) |
T261A |
probably benign |
Het |
| Or8s16 |
A |
G |
15: 98,211,219 (GRCm39) |
Y71H |
possibly damaging |
Het |
| P3h4 |
C |
T |
11: 100,302,575 (GRCm39) |
E354K |
probably benign |
Het |
| Plekhm2 |
T |
G |
4: 141,356,843 (GRCm39) |
T787P |
possibly damaging |
Het |
| Ppia |
C |
T |
11: 6,368,230 (GRCm39) |
T37I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,200,511 (GRCm39) |
M1330L |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,539,426 (GRCm39) |
E53G |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,823,482 (GRCm39) |
V721E |
probably damaging |
Het |
| Slc33a1 |
A |
T |
3: 63,850,709 (GRCm39) |
D538E |
probably benign |
Het |
| Son |
T |
C |
16: 91,471,629 (GRCm39) |
|
|
Het |
| Srebf1 |
A |
T |
11: 60,094,341 (GRCm39) |
S591R |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Taok2 |
G |
A |
7: 126,469,319 (GRCm39) |
R1170W |
probably damaging |
Het |
| Tsc2 |
A |
T |
17: 24,845,688 (GRCm39) |
V210E |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,775,249 (GRCm39) |
N1648K |
possibly damaging |
Het |
| Vgll3 |
C |
T |
16: 65,636,131 (GRCm39) |
P94L |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,349,362 (GRCm39) |
V740E |
probably damaging |
Het |
| Yeats2 |
A |
G |
16: 20,040,460 (GRCm39) |
E1127G |
possibly damaging |
Het |
| Zfp709 |
T |
A |
8: 72,643,329 (GRCm39) |
Y252N |
probably damaging |
Het |
|
| Other mutations in Ndufaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Ndufaf1
|
APN |
2 |
119,490,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01871:Ndufaf1
|
APN |
2 |
119,488,768 (GRCm39) |
nonsense |
probably null |
|
|
IGL02452:Ndufaf1
|
APN |
2 |
119,486,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Ndufaf1
|
APN |
2 |
119,486,280 (GRCm39) |
splice site |
probably benign |
|
|
R1211:Ndufaf1
|
UTSW |
2 |
119,486,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Ndufaf1
|
UTSW |
2 |
119,486,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2421:Ndufaf1
|
UTSW |
2 |
119,486,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Ndufaf1
|
UTSW |
2 |
119,486,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Ndufaf1
|
UTSW |
2 |
119,490,752 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4942:Ndufaf1
|
UTSW |
2 |
119,490,547 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5382:Ndufaf1
|
UTSW |
2 |
119,490,893 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5460:Ndufaf1
|
UTSW |
2 |
119,490,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5732:Ndufaf1
|
UTSW |
2 |
119,490,521 (GRCm39) |
nonsense |
probably null |
|
|
R5777:Ndufaf1
|
UTSW |
2 |
119,490,963 (GRCm39) |
nonsense |
probably null |
|
|
R5919:Ndufaf1
|
UTSW |
2 |
119,490,709 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6378:Ndufaf1
|
UTSW |
2 |
119,486,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7202:Ndufaf1
|
UTSW |
2 |
119,488,907 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7224:Ndufaf1
|
UTSW |
2 |
119,488,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:Ndufaf1
|
UTSW |
2 |
119,490,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Ndufaf1
|
UTSW |
2 |
119,490,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8319:Ndufaf1
|
UTSW |
2 |
119,490,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Ndufaf1
|
UTSW |
2 |
119,490,712 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTTTTACACTAAGGCCAAGC -3'
(R):5'- AAATTGTGGCTCATTTGAGAGG -3'
Sequencing Primer
(F):5'- GCAGTTACATACCTCCTTATAAGGC -3'
(R):5'- TCATTTGAGAGGCCCAGACG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation