Incidental Mutation 'R5314:Phtf1'
| ID |
405729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf1
|
| Ensembl Gene |
ENSMUSG00000058388 |
| Gene Name |
putative homeodomain transcription factor 1 |
| Synonyms |
Phft |
| MMRRC Submission |
042897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103906603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 606
(R606H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114722
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000145727]
[ENSMUST00000150849]
|
| AlphaFold |
Q9QZ09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055425
AA Change: R553H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: R553H
| 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 damaging
Transcript: ENSMUST00000063717
AA Change: R606H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: R606H
| 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 damaging
Transcript: ENSMUST00000090685
AA Change: R561H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: R561H
| 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 damaging
Transcript: ENSMUST00000117150
AA Change: R606H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: R606H
| 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 |
noncoding transcript
Transcript: ENSMUST00000130385
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145727
AA Change: R606H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: R606H
| 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 |
noncoding transcript
Transcript: ENSMUST00000150090
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,473,172 (GRCm39) |
F109S |
unknown |
Het |
| Ankhd1 |
A |
T |
18: 36,694,111 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,863,248 (GRCm39) |
|
probably null |
Het |
| Ccdc136 |
G |
T |
6: 29,417,497 (GRCm39) |
V707F |
probably benign |
Het |
| Ccdc157 |
A |
T |
11: 4,100,078 (GRCm39) |
C91* |
probably null |
Het |
| Ceacam3 |
T |
A |
7: 16,892,296 (GRCm39) |
N346K |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,626 (GRCm39) |
D1196G |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,077,551 (GRCm39) |
E74G |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,892 (GRCm39) |
M665V |
probably benign |
Het |
| Crtc2 |
C |
T |
3: 90,168,348 (GRCm39) |
Q364* |
probably null |
Het |
| Csf1r |
T |
A |
18: 61,262,796 (GRCm39) |
I857N |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,558,460 (GRCm39) |
G168D |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,443,182 (GRCm39) |
T315A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,493 (GRCm39) |
V153A |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,211,682 (GRCm39) |
I193T |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,462,969 (GRCm39) |
I9T |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,246 (GRCm39) |
I208F |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,364 (GRCm39) |
V243A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,869,534 (GRCm39) |
V4297A |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,677,960 (GRCm39) |
P106S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,352,486 (GRCm39) |
T218A |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,946,220 (GRCm39) |
S1677P |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,526 (GRCm39) |
M293K |
probably damaging |
Het |
| Meis3 |
T |
A |
7: 15,917,989 (GRCm39) |
V307E |
probably damaging |
Het |
| Nadk2 |
A |
C |
15: 9,108,401 (GRCm39) |
I417L |
probably benign |
Het |
| Nav2 |
AAGCAGCAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCAGCAGCA |
7: 49,058,440 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,515 (GRCm39) |
N1659K |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,630 (GRCm39) |
V274A |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,785 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pde3b |
A |
T |
7: 114,093,772 (GRCm39) |
N339Y |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,223,361 (GRCm39) |
F298L |
possibly damaging |
Het |
| Psd4 |
A |
G |
2: 24,290,528 (GRCm39) |
D535G |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,905,121 (GRCm39) |
V130A |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,474 (GRCm39) |
F57L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,401 (GRCm39) |
V1334A |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,870,686 (GRCm39) |
E433G |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,413 (GRCm39) |
R277* |
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,805,015 (GRCm39) |
S349T |
probably benign |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,368,067 (GRCm39) |
|
probably null |
Het |
| Smc1b |
T |
A |
15: 84,955,066 (GRCm39) |
Y1062F |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,476 (GRCm39) |
R298* |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,246 (GRCm39) |
C189S |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,382,672 (GRCm39) |
D103E |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,568,087 (GRCm39) |
I236V |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,407 (GRCm39) |
V316A |
probably damaging |
Het |
| Treml2 |
T |
A |
17: 48,607,601 (GRCm39) |
L16Q |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,335,337 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,013,178 (GRCm39) |
Y567H |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,087 (GRCm39) |
R441* |
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,679,373 (GRCm39) |
I59M |
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 |
|
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 |
|
R9020:Phtf1
|
UTSW |
3 |
103,898,694 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGGACAGAAACCTTTGGATTGAATG -3'
(R):5'- CACATTTAAAATACACGAGTGAGCG -3'
Sequencing Primer
(F):5'- ATGCTTTTCTGACTGGGAAAGATCC -3'
(R):5'- ATACACGAGTGAGCGCACCG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation