Incidental Mutation 'R6579:AU021092'
| ID |
523958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
AU021092
|
| Ensembl Gene |
ENSMUSG00000051669 |
| Gene Name |
expressed sequence AU021092 |
| Synonyms |
|
| MMRRC Submission |
044703-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6579 (G1)
|
| Quality Score |
122.008 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
5029687-5040163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5040020 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 35
(I35F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050160]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050160
AA Change: I35F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058860
Gene: ENSMUSG00000051669
AA Change: I35F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF4735
|
56 |
334 |
2.4e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180354
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed predominantly in the thyroid. Based on expression patterns similar to thyroid transcription factors and proteins, this gene may function in the development and function of the thyroid. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,507 (GRCm39) |
V80D |
possibly damaging |
Het |
| 6330409D20Rik |
T |
C |
2: 32,630,663 (GRCm39) |
|
probably benign |
Het |
| Adam15 |
C |
T |
3: 89,252,936 (GRCm39) |
V261M |
probably damaging |
Het |
| Adam29 |
G |
T |
8: 56,325,779 (GRCm39) |
T225K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,223,011 (GRCm39) |
T654A |
probably damaging |
Het |
| Cdk20 |
G |
T |
13: 64,584,348 (GRCm39) |
Q114H |
probably benign |
Het |
| Col22a1 |
A |
C |
15: 71,753,502 (GRCm39) |
S133A |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,727,516 (GRCm39) |
F271Y |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,412,120 (GRCm39) |
V1332E |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,668,658 (GRCm39) |
D117E |
probably benign |
Het |
| Dnai7 |
A |
T |
6: 145,124,744 (GRCm39) |
M527K |
probably benign |
Het |
| Dnajc5 |
A |
G |
2: 181,189,209 (GRCm39) |
N62D |
possibly damaging |
Het |
| Gm3045 |
C |
T |
13: 56,578,103 (GRCm39) |
S180L |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,171,381 (GRCm39) |
V347D |
possibly damaging |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,421 (GRCm39) |
Y93* |
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nell2 |
A |
T |
15: 95,282,957 (GRCm39) |
Y362N |
possibly damaging |
Het |
| Or5an1c |
C |
T |
19: 12,218,726 (GRCm39) |
V100I |
probably benign |
Het |
| Peli1 |
A |
T |
11: 21,097,059 (GRCm39) |
T150S |
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,047 (GRCm39) |
T3169A |
probably benign |
Het |
| Polr2m |
T |
A |
9: 71,393,002 (GRCm39) |
E26V |
probably damaging |
Het |
| Rhbdf2 |
A |
G |
11: 116,495,289 (GRCm39) |
V238A |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,496,166 (GRCm39) |
P820H |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,106 (GRCm39) |
T1698A |
probably damaging |
Het |
| Scgn |
C |
T |
13: 24,143,717 (GRCm39) |
A216T |
probably damaging |
Het |
| Serpina11 |
T |
A |
12: 103,951,007 (GRCm39) |
D238V |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,378,846 (GRCm39) |
E887V |
possibly damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trak1 |
C |
A |
9: 121,272,704 (GRCm39) |
N197K |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Uchl5 |
T |
A |
1: 143,674,130 (GRCm39) |
Y211N |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,039,197 (GRCm39) |
S1226T |
possibly damaging |
Het |
| Utrn |
T |
C |
10: 12,623,750 (GRCm39) |
T163A |
probably benign |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,331,206 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in AU021092 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02751:AU021092
|
APN |
16 |
5,030,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:AU021092
|
UTSW |
16 |
5,038,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:AU021092
|
UTSW |
16 |
5,040,031 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0344:AU021092
|
UTSW |
16 |
5,040,031 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0346:AU021092
|
UTSW |
16 |
5,034,718 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0525:AU021092
|
UTSW |
16 |
5,035,725 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3804:AU021092
|
UTSW |
16 |
5,034,626 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4659:AU021092
|
UTSW |
16 |
5,030,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:AU021092
|
UTSW |
16 |
5,030,057 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5031:AU021092
|
UTSW |
16 |
5,030,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:AU021092
|
UTSW |
16 |
5,029,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6175:AU021092
|
UTSW |
16 |
5,038,312 (GRCm39) |
splice site |
probably null |
|
|
R6217:AU021092
|
UTSW |
16 |
5,030,050 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6957:AU021092
|
UTSW |
16 |
5,030,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8414:AU021092
|
UTSW |
16 |
5,034,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:AU021092
|
UTSW |
16 |
5,032,585 (GRCm39) |
splice site |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAAGAGCTCTGAGTCCTC -3'
(R):5'- CTTCCTGGGTAAGAGGAATGG -3'
Sequencing Primer
(F):5'- GTCCTCATCTTATCCAACAGGAGGG -3'
(R):5'- GCGGGAACAGAGTGTTTAAAGGATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation