Incidental Mutation 'R3934:Mitf'
| ID |
306936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mitf
|
| Ensembl Gene |
ENSMUSG00000035158 |
| Gene Name |
melanogenesis associated transcription factor |
| Synonyms |
Gsfbcc2, mi, BCC2, bHLHe32, wh |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R3934 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
97784013-97998310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97970214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 54
(P54S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043628]
[ENSMUST00000043637]
[ENSMUST00000101123]
[ENSMUST00000113339]
[ENSMUST00000139462]
[ENSMUST00000203884]
[ENSMUST00000203938]
|
| AlphaFold |
Q08874 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043628
AA Change: P54S
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: P54S
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
210 |
263 |
5.53e-17 |
SMART |
|
Pfam:DUF3371
|
290 |
416 |
9.5e-47 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043637
AA Change: P161S
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: P161S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:MITF_TFEB_C_3_N
|
56 |
228 |
3.1e-52 |
PFAM |
|
HLH
|
317 |
370 |
5.53e-17 |
SMART |
|
Pfam:DUF3371
|
397 |
522 |
2.7e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101123
AA Change: P145S
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: P145S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
44 |
74 |
N/A |
INTRINSIC |
|
HLH
|
301 |
354 |
5.53e-17 |
SMART |
|
Pfam:DUF3371
|
381 |
507 |
4.8e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113339
AA Change: P136S
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: P136S
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
35 |
65 |
N/A |
INTRINSIC |
|
HLH
|
292 |
345 |
5.53e-17 |
SMART |
|
Pfam:DUF3371
|
372 |
498 |
4.6e-47 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139462
AA Change: P54S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203884
AA Change: P161S
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: P161S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
44 |
N/A |
INTRINSIC |
|
Pfam:MITF_TFEB_C_3_N
|
56 |
228 |
2.2e-49 |
PFAM |
|
HLH
|
311 |
364 |
2.3e-19 |
SMART |
|
Pfam:DUF3371
|
391 |
516 |
1.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203938
|
| SMART Domains |
Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MITF_TFEB_C_3_N
|
7 |
60 |
2.2e-7 |
PFAM |
|
HLH
|
148 |
201 |
2.3e-19 |
SMART |
|
Pfam:DUF3371
|
228 |
353 |
9.2e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.1640 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
T |
A |
12: 18,584,082 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,405,432 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,623,166 (GRCm39) |
F3819S |
probably benign |
Het |
| Aig1 |
T |
C |
10: 13,677,656 (GRCm39) |
D112G |
probably damaging |
Het |
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| C2cd5 |
C |
T |
6: 142,987,106 (GRCm39) |
V499I |
possibly damaging |
Het |
| Capn11 |
A |
T |
17: 45,945,213 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,589,933 (GRCm39) |
D221G |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,709,317 (GRCm39) |
V766A |
probably benign |
Het |
| Fastk |
G |
T |
5: 24,647,257 (GRCm39) |
S317* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,496,669 (GRCm39) |
|
probably benign |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,458,164 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,270,496 (GRCm39) |
|
probably null |
Het |
| Hspbp1 |
A |
T |
7: 4,667,594 (GRCm39) |
M271K |
probably benign |
Het |
| Itgb6 |
G |
A |
2: 60,441,755 (GRCm39) |
T685M |
possibly damaging |
Het |
| Itih5 |
G |
A |
2: 10,250,355 (GRCm39) |
V685I |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,130,901 (GRCm39) |
S421G |
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Perm1 |
A |
G |
4: 156,303,627 (GRCm39) |
T724A |
probably benign |
Het |
| Pex5l |
T |
C |
3: 33,061,321 (GRCm39) |
E176G |
probably damaging |
Het |
| Polk |
A |
T |
13: 96,638,143 (GRCm39) |
M192K |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,526,169 (GRCm39) |
I401V |
probably benign |
Het |
| Prpf38b |
T |
C |
3: 108,811,741 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,886,938 (GRCm39) |
S330P |
probably damaging |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,174 (GRCm39) |
|
probably benign |
Het |
| Sod3 |
T |
C |
5: 52,525,987 (GRCm39) |
S229P |
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,149,494 (GRCm39) |
K958N |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 187,995,708 (GRCm39) |
|
probably null |
Het |
| Vmn2r19 |
T |
A |
6: 123,292,628 (GRCm39) |
D223E |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,532,462 (GRCm39) |
S87T |
probably damaging |
Het |
| Wdr35 |
G |
T |
12: 9,058,014 (GRCm39) |
G513C |
probably damaging |
Het |
|
| Other mutations in Mitf |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Mitf
|
APN |
6 |
97,994,892 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01516:Mitf
|
APN |
6 |
97,987,351 (GRCm39) |
splice site |
probably null |
|
|
IGL01617:Mitf
|
APN |
6 |
97,973,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01875:Mitf
|
APN |
6 |
97,994,856 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0010:Mitf
|
UTSW |
6 |
97,784,242 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0010:Mitf
|
UTSW |
6 |
97,784,242 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0079:Mitf
|
UTSW |
6 |
97,973,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0381:Mitf
|
UTSW |
6 |
97,970,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Mitf
|
UTSW |
6 |
97,971,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0633:Mitf
|
UTSW |
6 |
97,980,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0829:Mitf
|
UTSW |
6 |
97,980,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1189:Mitf
|
UTSW |
6 |
97,983,086 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1459:Mitf
|
UTSW |
6 |
97,987,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Mitf
|
UTSW |
6 |
97,918,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Mitf
|
UTSW |
6 |
97,987,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Mitf
|
UTSW |
6 |
97,918,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3936:Mitf
|
UTSW |
6 |
97,970,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Mitf
|
UTSW |
6 |
97,968,910 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5052:Mitf
|
UTSW |
6 |
97,987,406 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5097:Mitf
|
UTSW |
6 |
97,973,423 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5297:Mitf
|
UTSW |
6 |
97,971,391 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5646:Mitf
|
UTSW |
6 |
97,990,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Mitf
|
UTSW |
6 |
97,973,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Mitf
|
UTSW |
6 |
97,980,873 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6411:Mitf
|
UTSW |
6 |
97,987,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7855:Mitf
|
UTSW |
6 |
97,970,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Mitf
|
UTSW |
6 |
97,990,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7975:Mitf
|
UTSW |
6 |
97,994,990 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8061:Mitf
|
UTSW |
6 |
97,970,259 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9135:Mitf
|
UTSW |
6 |
97,990,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Mitf
|
UTSW |
6 |
97,994,835 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9261:Mitf
|
UTSW |
6 |
97,990,704 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9795:Mitf
|
UTSW |
6 |
97,970,143 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Mitf
|
UTSW |
6 |
97,983,082 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTGGTCAGTCTCACAATC -3'
(R):5'- TCCATTGCTAAGGGCGAGAG -3'
Sequencing Primer
(F):5'- GTCAGTCTCACAATCTATGCTACAGG -3'
(R):5'- GGAGTATCCCACAGACAGTTAATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation