Incidental Mutation 'R9020:Phtf1'
| ID |
686645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf1
|
| Ensembl Gene |
ENSMUSG00000058388 |
| Gene Name |
putative homeodomain transcription factor 1 |
| Synonyms |
Phft |
| MMRRC Submission |
068850-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to G
at 103898694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 339
(S339*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000123611]
[ENSMUST00000145727]
[ENSMUST00000150849]
[ENSMUST00000156262]
|
| AlphaFold |
Q9QZ09 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055425
AA Change: S286*
|
| SMART Domains |
Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: S286*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
8.6e-31 |
PFAM |
|
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
5.2e-18 |
PFAM |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
317 |
N/A |
INTRINSIC |
|
transmembrane domain
|
470 |
492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
557 |
579 |
N/A |
INTRINSIC |
|
transmembrane domain
|
594 |
611 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000063717
AA Change: S339*
|
| SMART Domains |
Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: S339*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
5 |
151 |
9.9e-73 |
PFAM |
|
low complexity region
|
155 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
|
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000090685
AA Change: S294*
|
| SMART Domains |
Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: S294*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
8.9e-89 |
PFAM |
|
low complexity region
|
302 |
325 |
N/A |
INTRINSIC |
|
transmembrane domain
|
428 |
447 |
N/A |
INTRINSIC |
|
transmembrane domain
|
467 |
489 |
N/A |
INTRINSIC |
|
transmembrane domain
|
565 |
587 |
N/A |
INTRINSIC |
|
transmembrane domain
|
602 |
619 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117150
AA Change: S339*
|
| SMART Domains |
Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: S339*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
|
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123611
|
| SMART Domains |
Protein: ENSMUSP00000116193
Gene: ENSMUSG00000058388
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
9 |
139 |
1.7e-67 |
PFAM |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000145727
AA Change: S339*
|
| SMART Domains |
Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: S339*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
1.6e-88 |
PFAM |
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
370 |
N/A |
INTRINSIC |
|
transmembrane domain
|
473 |
492 |
N/A |
INTRINSIC |
|
transmembrane domain
|
512 |
534 |
N/A |
INTRINSIC |
|
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
|
transmembrane domain
|
647 |
664 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150849
|
| SMART Domains |
Protein: ENSMUSP00000118281
Gene: ENSMUSG00000058388
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
158 |
4.5e-90 |
PFAM |
|
low complexity region
|
170 |
181 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156262
|
| SMART Domains |
Protein: ENSMUSP00000121036
Gene: ENSMUSG00000058388
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Phtf-FEM1B_bdg
|
3 |
60 |
1e-31 |
PFAM |
|
Pfam:Phtf-FEM1B_bdg
|
57 |
105 |
7.2e-19 |
PFAM |
|
low complexity region
|
117 |
128 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (58/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,605,615 (GRCm39) |
S586P |
probably damaging |
Het |
| Adora3 |
T |
A |
3: 105,815,141 (GRCm39) |
I297N |
probably damaging |
Het |
| Adrb3 |
A |
T |
8: 27,717,947 (GRCm39) |
F167L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,999 (GRCm39) |
Y3955C |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,135 (GRCm39) |
D963G |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,951,057 (GRCm39) |
N11S |
possibly damaging |
Het |
| Casr |
A |
G |
16: 36,315,611 (GRCm39) |
S820P |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,281,915 (GRCm39) |
R447C |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,257,522 (GRCm39) |
V1019E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,959,552 (GRCm39) |
E866G |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,084,469 (GRCm39) |
D713E |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,676 (GRCm39) |
F240S |
possibly damaging |
Het |
| Cyp26b1 |
C |
T |
6: 84,552,056 (GRCm39) |
V361I |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,712,787 (GRCm39) |
I1597N |
possibly damaging |
Het |
| Dnajc25 |
C |
A |
4: 59,003,470 (GRCm39) |
Y80* |
probably null |
Het |
| Fbxo17 |
A |
T |
7: 28,436,782 (GRCm39) |
N246Y |
possibly damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,058 (GRCm39) |
T549A |
probably benign |
Het |
| Gm9758 |
A |
C |
5: 14,964,739 (GRCm39) |
N35K |
|
Het |
| Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,573 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,432,526 (GRCm39) |
M290V |
probably benign |
Het |
| Irx1 |
A |
T |
13: 72,111,548 (GRCm39) |
Y20* |
probably null |
Het |
| Jade2 |
T |
A |
11: 51,708,454 (GRCm39) |
Q572L |
probably benign |
Het |
| Kcne4 |
T |
A |
1: 78,795,425 (GRCm39) |
H24Q |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,463 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,512,049 (GRCm39) |
V1068E |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,118 (GRCm39) |
V95D |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,961 (GRCm39) |
D32G |
probably damaging |
Het |
| Mavs |
A |
G |
2: 131,088,594 (GRCm39) |
E466G |
possibly damaging |
Het |
| Mipep |
T |
A |
14: 61,068,677 (GRCm39) |
L483* |
probably null |
Het |
| Muc16 |
G |
GAATGGCTTTCTT |
9: 18,550,015 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,549,992 (GRCm39) |
Q491K |
probably benign |
Het |
| Nle1 |
C |
G |
11: 82,797,275 (GRCm39) |
E146Q |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,150 (GRCm39) |
Y787H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,443 (GRCm39) |
S263G |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,837 (GRCm39) |
I505S |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,327,585 (GRCm39) |
I424F |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,211,497 (GRCm39) |
T681S |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,316,036 (GRCm39) |
L700P |
probably damaging |
Het |
| Prtg |
C |
T |
9: 72,799,277 (GRCm39) |
T769I |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,165,146 (GRCm39) |
V340A |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,023 (GRCm39) |
E548D |
probably benign |
Het |
| Rsph10b |
G |
A |
5: 143,922,283 (GRCm39) |
R823Q |
probably benign |
Het |
| Scgb1b3 |
A |
G |
7: 31,075,276 (GRCm39) |
E42G |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,488,858 (GRCm39) |
N486D |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,745,659 (GRCm39) |
I257N |
possibly damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,032,704 (GRCm39) |
I217F |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,723,480 (GRCm39) |
S467G |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,783,653 (GRCm39) |
K607R |
probably benign |
Het |
| Tek |
C |
G |
4: 94,708,339 (GRCm39) |
P350R |
probably benign |
Het |
| Tet3 |
T |
C |
6: 83,381,418 (GRCm39) |
D250G |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,850,770 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Tsc2 |
G |
T |
17: 24,845,691 (GRCm39) |
T209K |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,752,366 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Uchl3 |
A |
T |
14: 101,903,986 (GRCm39) |
K74N |
probably damaging |
Het |
| Usp10 |
T |
G |
8: 120,667,904 (GRCm39) |
S68R |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,650,282 (GRCm39) |
I295V |
probably benign |
Het |
|
| Other mutations in Phtf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Phtf1
|
APN |
3 |
103,895,983 (GRCm39) |
missense |
probably benign |
|
|
IGL01139:Phtf1
|
APN |
3 |
103,912,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01677:Phtf1
|
APN |
3 |
103,906,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Phtf1
|
APN |
3 |
103,904,815 (GRCm39) |
missense |
probably benign |
|
|
IGL02542:Phtf1
|
APN |
3 |
103,901,222 (GRCm39) |
splice site |
probably benign |
|
|
IGL02557:Phtf1
|
APN |
3 |
103,906,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Phtf1
|
APN |
3 |
103,904,879 (GRCm39) |
missense |
probably benign |
|
|
IGL02807:Phtf1
|
APN |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0140:Phtf1
|
UTSW |
3 |
103,894,876 (GRCm39) |
missense |
probably null |
1.00 |
|
R0555:Phtf1
|
UTSW |
3 |
103,911,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Phtf1
|
UTSW |
3 |
103,901,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1480:Phtf1
|
UTSW |
3 |
103,894,750 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Phtf1
|
UTSW |
3 |
103,903,958 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1804:Phtf1
|
UTSW |
3 |
103,894,883 (GRCm39) |
unclassified |
probably benign |
|
|
R1921:Phtf1
|
UTSW |
3 |
103,876,438 (GRCm39) |
nonsense |
probably null |
|
|
R1943:Phtf1
|
UTSW |
3 |
103,901,198 (GRCm39) |
nonsense |
probably null |
|
|
R2006:Phtf1
|
UTSW |
3 |
103,911,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3729:Phtf1
|
UTSW |
3 |
103,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Phtf1
|
UTSW |
3 |
103,893,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4051:Phtf1
|
UTSW |
3 |
103,912,824 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4210:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4211:Phtf1
|
UTSW |
3 |
103,910,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4730:Phtf1
|
UTSW |
3 |
103,894,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Phtf1
|
UTSW |
3 |
103,906,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Phtf1
|
UTSW |
3 |
103,906,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5321:Phtf1
|
UTSW |
3 |
103,910,827 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5499:Phtf1
|
UTSW |
3 |
103,898,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6134:Phtf1
|
UTSW |
3 |
103,911,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6603:Phtf1
|
UTSW |
3 |
103,901,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Phtf1
|
UTSW |
3 |
103,906,012 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7311:Phtf1
|
UTSW |
3 |
103,904,980 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7519:Phtf1
|
UTSW |
3 |
103,876,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Phtf1
|
UTSW |
3 |
103,901,161 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7657:Phtf1
|
UTSW |
3 |
103,876,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8354:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Phtf1
|
UTSW |
3 |
103,911,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8669:Phtf1
|
UTSW |
3 |
103,910,792 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9295:Phtf1
|
UTSW |
3 |
103,904,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Phtf1
|
UTSW |
3 |
103,901,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9798:Phtf1
|
UTSW |
3 |
103,904,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTCAAGTGACAATGGTTATG -3'
(R):5'- TCACTTCCTTTCCAGAGGTGAG -3'
Sequencing Primer
(F):5'- CTTTCAAGGCACCTAAATTCTCAGG -3'
(R):5'- GGTGAGTAATCATCTCAGATTGAGCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation