Incidental Mutation 'IGL03344:Deaf1'
| ID |
417380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Deaf1
|
| Ensembl Gene |
ENSMUSG00000058886 |
| Gene Name |
DEAF1, transcription factor |
| Synonyms |
C230009B13Rik, NUDR, suppressin |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.729)
|
| Stock # |
IGL03344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140877093-140907603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140877461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 555
(H555Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026569]
[ENSMUST00000080553]
[ENSMUST00000211146]
[ENSMUST00000211537]
|
| AlphaFold |
Q9Z1T5 |
| PDB Structure |
LMO4-LIM2 in complex with DEAF1 (404-418) [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026569
|
| SMART Domains |
Protein: ENSMUSP00000026569
Gene: ENSMUSG00000025496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
40 |
182 |
9.6e-9 |
PFAM |
|
Pfam:7tm_1
|
48 |
368 |
1.8e-71 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080553
AA Change: H555Q
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886
AA Change: H555Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gkub1
|
6 |
35 |
9e-3 |
SMART |
|
low complexity region
|
43 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
186 |
N/A |
INTRINSIC |
|
SAND
|
202 |
274 |
9.78e-40 |
SMART |
|
low complexity region
|
277 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
338 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
505 |
541 |
8.9e-12 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209600
AA Change: H120Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210062
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211146
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211537
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit frequent exencephaly associated with neonatal lethality, rib cage abnormalities, and a low frequency of homeotic transformations of cervical segments but no presphenoid bone or cranial nerve defects; non-exencephalic survivors are healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
T |
8: 79,975,005 (GRCm39) |
I26N |
probably damaging |
Het |
| Atxn7l1 |
A |
G |
12: 33,376,065 (GRCm39) |
N47D |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,803,062 (GRCm39) |
W87R |
probably damaging |
Het |
| Chrna2 |
A |
G |
14: 66,388,415 (GRCm39) |
K477E |
probably damaging |
Het |
| Chtf8 |
G |
A |
8: 107,612,904 (GRCm39) |
P12S |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,216,942 (GRCm39) |
P720Q |
possibly damaging |
Het |
| Dop1a |
T |
G |
9: 86,418,197 (GRCm39) |
I1975M |
probably damaging |
Het |
| Ecpas |
A |
C |
4: 58,828,538 (GRCm39) |
V965G |
probably damaging |
Het |
| Fsd2 |
C |
A |
7: 81,209,657 (GRCm39) |
V62L |
probably benign |
Het |
| Fxyd6 |
T |
G |
9: 45,303,548 (GRCm39) |
L81R |
probably benign |
Het |
| Htt |
T |
A |
5: 35,064,810 (GRCm39) |
S3008T |
probably benign |
Het |
| Htt |
T |
A |
5: 35,037,172 (GRCm39) |
S2086T |
probably benign |
Het |
| Mybbp1a |
G |
T |
11: 72,336,028 (GRCm39) |
R447L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 90,998,411 (GRCm39) |
V792A |
possibly damaging |
Het |
| Odad2 |
C |
A |
18: 7,129,434 (GRCm39) |
G915* |
probably null |
Het |
| Odr4 |
T |
C |
1: 150,239,295 (GRCm39) |
E386G |
probably damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,003 (GRCm39) |
I302L |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,140 (GRCm39) |
S239P |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,482 (GRCm39) |
D121G |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,942,229 (GRCm39) |
V548A |
possibly damaging |
Het |
| Serpina3c |
T |
C |
12: 104,113,523 (GRCm39) |
I408V |
probably benign |
Het |
| Ska2 |
A |
G |
11: 87,000,139 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
A |
18: 36,668,654 (GRCm39) |
Y745N |
probably damaging |
Het |
| Spart |
T |
C |
3: 55,029,106 (GRCm39) |
M299T |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,332 (GRCm39) |
E209G |
possibly damaging |
Het |
| Tmem202 |
T |
C |
9: 59,426,351 (GRCm39) |
T272A |
possibly damaging |
Het |
| Vegfc |
T |
A |
8: 54,610,186 (GRCm39) |
I114N |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,493 (GRCm39) |
T274S |
possibly damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,170 (GRCm39) |
N753S |
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,014,314 (GRCm39) |
T624A |
probably damaging |
Het |
|
| Other mutations in Deaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02306:Deaf1
|
APN |
7 |
140,904,094 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02393:Deaf1
|
APN |
7 |
140,893,246 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03108:Deaf1
|
APN |
7 |
140,902,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Qball
|
UTSW |
7 |
140,902,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Deaf1
|
UTSW |
7 |
140,904,060 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1702:Deaf1
|
UTSW |
7 |
140,894,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2849:Deaf1
|
UTSW |
7 |
140,894,367 (GRCm39) |
makesense |
probably null |
|
|
R4600:Deaf1
|
UTSW |
7 |
140,890,884 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4611:Deaf1
|
UTSW |
7 |
140,890,884 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4649:Deaf1
|
UTSW |
7 |
140,877,486 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4953:Deaf1
|
UTSW |
7 |
140,902,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Deaf1
|
UTSW |
7 |
140,902,863 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7168:Deaf1
|
UTSW |
7 |
140,904,509 (GRCm39) |
intron |
probably benign |
|
|
R7186:Deaf1
|
UTSW |
7 |
140,907,383 (GRCm39) |
missense |
probably benign |
|
|
R7343:Deaf1
|
UTSW |
7 |
140,902,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Deaf1
|
UTSW |
7 |
140,877,492 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8190:Deaf1
|
UTSW |
7 |
140,894,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Deaf1
|
UTSW |
7 |
140,877,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9008:Deaf1
|
UTSW |
7 |
140,904,078 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9089:Deaf1
|
UTSW |
7 |
140,877,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Deaf1
|
UTSW |
7 |
140,881,387 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation