Incidental Mutation 'R0021:Phf7'
ID |
218441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Phf7
|
Ensembl Gene |
ENSMUSG00000021902 |
Gene Name |
PHD finger protein 7 |
Synonyms |
1700010P14Rik, 1700006H01Rik |
MMRRC Submission |
038316-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0021 (G1)
|
Quality Score |
57 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
30959646-30973274 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 30960443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022459]
[ENSMUST00000226310]
[ENSMUST00000226565]
[ENSMUST00000228437]
[ENSMUST00000228930]
|
AlphaFold |
Q9DAG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022459
|
SMART Domains |
Protein: ENSMUSP00000022459 Gene: ENSMUSG00000021902
Domain | Start | End | E-Value | Type |
PHD
|
97 |
145 |
8.45e-3 |
SMART |
RING
|
160 |
207 |
7.46e-1 |
SMART |
RING
|
250 |
300 |
4.87e0 |
SMART |
PHD
|
252 |
301 |
1.16e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226310
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227668
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228437
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228930
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
97% (60/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
Saal1 |
A |
T |
7: 46,342,316 (GRCm39) |
S376T |
probably damaging |
Het |
Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
probably damaging |
Het |
|
Other mutations in Phf7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0021:Phf7
|
UTSW |
14 |
30,960,443 (GRCm39) |
splice site |
probably benign |
|
R1331:Phf7
|
UTSW |
14 |
30,962,362 (GRCm39) |
nonsense |
probably null |
|
R1912:Phf7
|
UTSW |
14 |
30,962,281 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5185:Phf7
|
UTSW |
14 |
30,969,994 (GRCm39) |
splice site |
probably null |
|
R6129:Phf7
|
UTSW |
14 |
30,962,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Phf7
|
UTSW |
14 |
30,961,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7358:Phf7
|
UTSW |
14 |
30,963,745 (GRCm39) |
missense |
probably benign |
0.01 |
R7427:Phf7
|
UTSW |
14 |
30,962,370 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7428:Phf7
|
UTSW |
14 |
30,962,370 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7538:Phf7
|
UTSW |
14 |
30,960,386 (GRCm39) |
missense |
probably benign |
|
R7666:Phf7
|
UTSW |
14 |
30,962,311 (GRCm39) |
missense |
probably damaging |
0.98 |
R8891:Phf7
|
UTSW |
14 |
30,971,613 (GRCm39) |
start gained |
probably benign |
|
R8946:Phf7
|
UTSW |
14 |
30,970,106 (GRCm39) |
splice site |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCCCATCCAAGTTCTTACAGCAG -3'
(R):5'- CCATTGGAAAGACACTCAGGGTCAG -3'
Sequencing Primer
(F):5'- AAGTTCTTACAGCAGACCATCCTTC -3'
(R):5'- gcttctattcccaccatccac -3'
|
Posted On |
2014-08-08 |