Incidental Mutation 'R6768:Mtf1'
ID |
532031 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtf1
|
Ensembl Gene |
ENSMUSG00000028890 |
Gene Name |
metal response element binding transcription factor 1 |
Synonyms |
Thyls, metalloregulatory transcription factor, MTF-1, metal response element-binding transcription factor 1 |
MMRRC Submission |
044884-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6768 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
124696342-124743593 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 124731578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 385
(D385N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101799
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030723]
[ENSMUST00000106193]
|
AlphaFold |
Q07243 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030723
AA Change: D385N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000030723 Gene: ENSMUSG00000028890 AA Change: D385N
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106193
AA Change: D385N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000101799 Gene: ENSMUSG00000028890 AA Change: D385N
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
139 |
163 |
1.22e-4 |
SMART |
ZnF_C2H2
|
169 |
193 |
6.42e-4 |
SMART |
ZnF_C2H2
|
199 |
223 |
2.4e-3 |
SMART |
ZnF_C2H2
|
228 |
252 |
2.57e-3 |
SMART |
ZnF_C2H2
|
258 |
282 |
2.57e-3 |
SMART |
ZnF_C2H2
|
288 |
312 |
7.37e-4 |
SMART |
low complexity region
|
429 |
456 |
N/A |
INTRINSIC |
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
low complexity region
|
628 |
638 |
N/A |
INTRINSIC |
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0642 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
Validation Efficiency |
96% (45/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation show impaired hepatocyte development followed by embryonic liver degeneration, generalized edema, and death at ~14 days of gestation. Mutant embryonic fibroblasts show increased susceptibility to the cytotoxiceffects of cadmium and hydrogen peroxide. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
Islr |
G |
T |
9: 58,064,893 (GRCm39) |
Q205K |
possibly damaging |
Het |
Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
probably benign |
Het |
|
Other mutations in Mtf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01902:Mtf1
|
APN |
4 |
124,698,720 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02491:Mtf1
|
APN |
4 |
124,732,372 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02493:Mtf1
|
APN |
4 |
124,715,112 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02644:Mtf1
|
APN |
4 |
124,714,028 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02661:Mtf1
|
APN |
4 |
124,718,902 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03018:Mtf1
|
APN |
4 |
124,732,456 (GRCm39) |
missense |
probably benign |
0.44 |
LCD18:Mtf1
|
UTSW |
4 |
124,723,109 (GRCm39) |
intron |
probably benign |
|
R0443:Mtf1
|
UTSW |
4 |
124,718,075 (GRCm39) |
unclassified |
probably benign |
|
R0599:Mtf1
|
UTSW |
4 |
124,713,994 (GRCm39) |
splice site |
probably benign |
|
R1103:Mtf1
|
UTSW |
4 |
124,732,261 (GRCm39) |
missense |
probably benign |
0.28 |
R2496:Mtf1
|
UTSW |
4 |
124,732,697 (GRCm39) |
missense |
probably benign |
0.01 |
R4258:Mtf1
|
UTSW |
4 |
124,732,576 (GRCm39) |
missense |
probably benign |
0.00 |
R4818:Mtf1
|
UTSW |
4 |
124,698,505 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R5085:Mtf1
|
UTSW |
4 |
124,715,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R5248:Mtf1
|
UTSW |
4 |
124,714,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R5368:Mtf1
|
UTSW |
4 |
124,718,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R6368:Mtf1
|
UTSW |
4 |
124,718,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R7417:Mtf1
|
UTSW |
4 |
124,718,974 (GRCm39) |
missense |
probably null |
0.00 |
R7559:Mtf1
|
UTSW |
4 |
124,713,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R7730:Mtf1
|
UTSW |
4 |
124,732,412 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7739:Mtf1
|
UTSW |
4 |
124,718,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R8234:Mtf1
|
UTSW |
4 |
124,738,039 (GRCm39) |
missense |
probably benign |
0.44 |
R8878:Mtf1
|
UTSW |
4 |
124,715,023 (GRCm39) |
nonsense |
probably null |
|
R8954:Mtf1
|
UTSW |
4 |
124,698,649 (GRCm39) |
missense |
probably damaging |
0.96 |
R9129:Mtf1
|
UTSW |
4 |
124,698,913 (GRCm39) |
unclassified |
probably benign |
|
R9138:Mtf1
|
UTSW |
4 |
124,732,510 (GRCm39) |
nonsense |
probably null |
|
R9287:Mtf1
|
UTSW |
4 |
124,724,934 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Mtf1
|
UTSW |
4 |
124,732,640 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTAGGGGCAGGAATCACATC -3'
(R):5'- CAGACACTTCCATTCTAGCAAGTG -3'
Sequencing Primer
(F):5'- GGAATCACATCAAACGATCATTCTGG -3'
(R):5'- TGTTACCTACACACGTAAGGAG -3'
|
Posted On |
2018-08-29 |