Incidental Mutation 'R8669:Phtf1'
| ID |
661033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phtf1
|
| Ensembl Gene |
ENSMUSG00000058388 |
| Gene Name |
putative homeodomain transcription factor 1 |
| Synonyms |
Phft |
| MMRRC Submission |
068524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103875426-103914806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103910792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 639
(N639K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055425]
[ENSMUST00000063717]
[ENSMUST00000090685]
[ENSMUST00000117150]
[ENSMUST00000145727]
|
| AlphaFold |
Q9QZ09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055425
AA Change: N586K
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: N586K
| 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 benign
Transcript: ENSMUST00000063717
AA Change: N639K
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: N639K
| 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 benign
Transcript: ENSMUST00000090685
AA Change: N594K
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: N594K
| 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 benign
Transcript: ENSMUST00000117150
AA Change: N639K
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: N639K
| 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: ENSMUST00000145727
AA Change: N639K
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: N639K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,949,234 (GRCm39) |
S305T |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,268,881 (GRCm39) |
V154A |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,491 (GRCm39) |
T1515I |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,130,113 (GRCm39) |
N80Y |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc125 |
T |
C |
13: 100,832,683 (GRCm39) |
L420P |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
| Cdc20b |
C |
T |
13: 113,208,460 (GRCm39) |
P219S |
possibly damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,602 (GRCm39) |
D585G |
probably benign |
Het |
| Crnn |
A |
T |
3: 93,056,296 (GRCm39) |
R361* |
probably null |
Het |
| Defb5 |
A |
G |
8: 19,300,761 (GRCm39) |
I38V |
probably benign |
Het |
| Defb8 |
A |
G |
8: 19,495,973 (GRCm39) |
V29A |
probably benign |
Het |
| Dgkh |
A |
G |
14: 78,962,459 (GRCm39) |
V24A |
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,552,582 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,723,132 (GRCm39) |
N386S |
probably damaging |
Het |
| Dyrk1a |
G |
T |
16: 94,464,650 (GRCm39) |
R77L |
probably damaging |
Het |
| Fbxw19 |
G |
T |
9: 109,313,482 (GRCm39) |
L239I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,868,764 (GRCm39) |
I332L |
possibly damaging |
Het |
| Gcnt1 |
T |
G |
19: 17,307,143 (GRCm39) |
K194T |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,002 (GRCm39) |
W475R |
probably benign |
Het |
| Gpatch1 |
C |
A |
7: 34,991,204 (GRCm39) |
W613C |
probably damaging |
Het |
| Gulp1 |
T |
A |
1: 44,805,270 (GRCm39) |
S120T |
probably benign |
Het |
| Ift122 |
C |
A |
6: 115,900,252 (GRCm39) |
Q946K |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,370,928 (GRCm39) |
L1065H |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,476,050 (GRCm39) |
D579G |
probably damaging |
Het |
| Klhl40 |
T |
A |
9: 121,607,088 (GRCm39) |
S83T |
probably benign |
Het |
| Krt19 |
T |
C |
11: 100,031,993 (GRCm39) |
K320E |
probably damaging |
Het |
| Krt87 |
C |
A |
15: 101,385,777 (GRCm39) |
V273L |
probably benign |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,172,047 (GRCm39) |
|
probably null |
Het |
| Lrrk1 |
G |
A |
7: 65,912,344 (GRCm39) |
L1739F |
probably benign |
Het |
| Mthfr |
A |
G |
4: 148,135,934 (GRCm39) |
N336D |
probably benign |
Het |
| Myo6 |
T |
G |
9: 80,173,531 (GRCm39) |
L557R |
unknown |
Het |
| Naip2 |
T |
C |
13: 100,325,477 (GRCm39) |
S144G |
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,725,406 (GRCm39) |
K453E |
probably damaging |
Het |
| Or52ab7 |
A |
T |
7: 102,978,281 (GRCm39) |
D196V |
probably benign |
Het |
| Osm |
A |
T |
11: 4,189,665 (GRCm39) |
I150L |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,201,228 (GRCm39) |
M1K |
probably null |
Het |
| Rhbdl3 |
G |
A |
11: 80,244,339 (GRCm39) |
V349M |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,986,315 (GRCm39) |
S582P |
probably damaging |
Het |
| Slc16a14 |
A |
G |
1: 84,900,605 (GRCm39) |
S127P |
probably benign |
Het |
| Slc22a21 |
C |
T |
11: 53,870,643 (GRCm39) |
W14* |
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,430 (GRCm39) |
E553D |
probably benign |
Het |
| Speer4a1 |
T |
G |
5: 26,243,236 (GRCm39) |
N83T |
probably damaging |
Het |
| Svep1 |
T |
A |
4: 58,070,119 (GRCm39) |
S2556C |
possibly damaging |
Het |
| Tc2n |
T |
C |
12: 101,660,851 (GRCm39) |
N127S |
probably damaging |
Het |
| Tcstv7b |
C |
A |
13: 120,702,338 (GRCm39) |
P45T |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Thra |
T |
C |
11: 98,654,476 (GRCm39) |
V282A |
possibly damaging |
Het |
| Tmem161b |
A |
T |
13: 84,420,288 (GRCm39) |
|
probably null |
Het |
| Tmem218 |
C |
T |
9: 37,133,815 (GRCm39) |
A85V |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,252 (GRCm39) |
Y100H |
probably damaging |
Het |
| Unc5c |
A |
G |
3: 141,509,704 (GRCm39) |
D728G |
possibly damaging |
Het |
| Zfp462 |
T |
A |
4: 55,051,313 (GRCm39) |
I2262K |
probably damaging |
Het |
| Zfp804a |
A |
T |
2: 82,088,106 (GRCm39) |
D645V |
probably damaging |
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 |
|
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'- CCTTTGAGGAAACTGTAGATTGC -3'
(R):5'- AGTTAAGAACTCGGCCCAGTC -3'
Sequencing Primer
(F):5'- GGAGCACCTTCATAGAGGC -3'
(R):5'- TAAGAACTCGGCCCAGTCCTCTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation