Mutagenetix > Incidental Mutation

Incidental Mutation 'R0725:Pheta1'

218374

Institutional Source

Beutler Lab

Gene Symbol

Pheta1

Ensembl Gene

ENSMUSG00000044134

Gene Name

PH domain containing endocytic trafficking adaptor 1

Synonyms

A230106M15Rik, Fam109a, Ses1

MMRRC Submission

038907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R0725 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121987060-121992667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121991314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 225 (H225Q)

Ref Sequence

ENSEMBL: ENSMUSP00000143110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056654] [ENSMUST00000111752] [ENSMUST00000198155] [ENSMUST00000198271]

AlphaFold

Q8BH49

Predicted Effect

probably benign
Transcript: ENSMUST00000056654
AA Change: H225Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000062386
Gene: ENSMUSG00000044134
AA Change: H225Q

Domain	Start	End	E-Value	Type
PH	18	115	1.53e-18	SMART
low complexity region	134	145	N/A	INTRINSIC
low complexity region	163	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111752

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
coiled coil region	133	214	N/A	INTRINSIC
coiled coil region	235	311	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
CUT	484	569	7.62e-34	SMART
coiled coil region	626	655	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	740	757	N/A	INTRINSIC
CUT	829	917	6.52e-42	SMART
low complexity region	965	976	N/A	INTRINSIC
CUT	984	1070	1.12e-40	SMART
HOX	1113	1175	7.54e-13	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197910

Predicted Effect

probably benign
Transcript: ENSMUST00000198155

SMART Domains

Protein: ENSMUSP00000143324
Gene: ENSMUSG00000044134

Domain	Start	End	E-Value	Type
PH	18	103	4.5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198271
AA Change: H225Q

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143110
Gene: ENSMUSG00000044134
AA Change: H225Q

Domain	Start	End	E-Value	Type
PH	18	115	1.53e-18	SMART
low complexity region	134	145	N/A	INTRINSIC
low complexity region	163	185	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asph	C	T	4: 9,542,275 (GRCm39)	D305N	probably damaging	Het
Atp13a3	T	C	16: 30,170,205 (GRCm39)	K327R	probably damaging	Het
Cacna1s	T	C	1: 136,026,264 (GRCm39)		probably benign	Het
Ccnk	T	C	12: 108,161,834 (GRCm39)		probably benign	Het
Cep55	T	C	19: 38,048,622 (GRCm39)	S93P	possibly damaging	Het
Cfap300	A	T	9: 8,027,144 (GRCm39)	D131E	probably damaging	Het
Cfh	A	G	1: 140,085,081 (GRCm39)		probably benign	Het
Clptm1l	A	G	13: 73,754,462 (GRCm39)	T129A	probably benign	Het
Cntnap5a	A	G	1: 116,220,206 (GRCm39)	E672G	probably benign	Het
Cpped1	C	A	16: 11,646,314 (GRCm39)	W170L	probably damaging	Het
Crygb	T	C	1: 65,121,100 (GRCm39)	I76V	probably benign	Het
Cyp3a25	A	G	5: 145,931,746 (GRCm39)	S121P	probably damaging	Het
Cyp4b1	T	C	4: 115,484,024 (GRCm39)	D395G	probably damaging	Het
Dll4	T	C	2: 119,163,170 (GRCm39)	V597A	probably damaging	Het
Dock7	T	C	4: 98,833,528 (GRCm39)	D1891G	probably damaging	Het
Dsel	T	C	1: 111,787,682 (GRCm39)	D951G	possibly damaging	Het
Dync2h1	C	A	9: 7,015,497 (GRCm39)	V3603F	possibly damaging	Het
Fam167b	C	A	4: 129,472,078 (GRCm39)	A31S	probably damaging	Het
Fgfrl1	T	A	5: 108,852,539 (GRCm39)	I25N	probably damaging	Het
Gzf1	C	T	2: 148,526,569 (GRCm39)	R347*	probably null	Het
Heatr5b	T	A	17: 79,103,825 (GRCm39)	I1117F	probably benign	Het
Kntc1	T	C	5: 123,907,767 (GRCm39)	V456A	possibly damaging	Het
Macc1	C	A	12: 119,411,251 (GRCm39)	S673*	probably null	Het
Mpp4	T	C	1: 59,160,581 (GRCm39)	E574G	probably damaging	Het
Muc20	C	T	16: 32,613,858 (GRCm39)	M506I	probably benign	Het
Ncbp1	A	G	4: 46,152,056 (GRCm39)	T218A	probably benign	Het
Nfxl1	A	T	5: 72,716,473 (GRCm39)	V46E	probably benign	Het
Nfyc	G	T	4: 120,625,931 (GRCm39)		probably benign	Het
Niban1	A	G	1: 151,581,766 (GRCm39)	E454G	probably benign	Het
Or51f5	T	A	7: 102,423,739 (GRCm39)	S3T	probably benign	Het
Or8g55	A	T	9: 39,784,643 (GRCm39)	Q24L	probably damaging	Het
Osbpl8	T	C	10: 111,122,101 (GRCm39)	F681S	possibly damaging	Het
Pcm1	G	C	8: 41,740,848 (GRCm39)	E1031D	probably damaging	Het
Pdcd11	A	G	19: 47,115,730 (GRCm39)	E1486G	probably benign	Het
Pex12	G	T	11: 83,188,860 (GRCm39)	A45E	probably damaging	Het
Pigm	A	G	1: 172,204,384 (GRCm39)	D40G	probably damaging	Het
Pkp1	G	T	1: 135,808,478 (GRCm39)	N496K	probably benign	Het
Psmc4	T	C	7: 27,748,287 (GRCm39)	I54V	probably benign	Het
Rbm33	T	C	5: 28,599,481 (GRCm39)	V951A	unknown	Het
Selenbp2	G	T	3: 94,604,809 (GRCm39)		probably benign	Het
Slc3a1	G	A	17: 85,368,263 (GRCm39)	W510*	probably null	Het
Stx12	A	C	4: 132,584,701 (GRCm39)		probably benign	Het
Tas2r125	G	T	6: 132,887,085 (GRCm39)	D158Y	probably benign	Het
Tchp	C	A	5: 114,857,682 (GRCm39)	Q392K	probably benign	Het
Tmed11	T	A	5: 108,926,855 (GRCm39)	D139V	probably damaging	Het
Ttn	C	T	2: 76,578,654 (GRCm39)	V24080M	probably damaging	Het
Ush2a	G	A	1: 188,683,722 (GRCm39)	G4967D	probably damaging	Het
Vezf1	T	C	11: 87,964,156 (GRCm39)	S103P	probably benign	Het
Xpnpep3	T	C	15: 81,315,043 (GRCm39)	S248P	probably damaging	Het
Yipf2	G	C	9: 21,503,519 (GRCm39)		probably null	Het
Zfp110	A	T	7: 12,570,290 (GRCm39)	Q39L	possibly damaging	Het
Zfp287	A	T	11: 62,605,039 (GRCm39)	C623S	probably damaging	Het

Other mutations in Pheta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2099:Pheta1	UTSW	5	121,991,349 (GRCm39)	missense	possibly damaging	0.93
R5287:Pheta1	UTSW	5	121,990,794 (GRCm39)	missense	possibly damaging	0.53
R5403:Pheta1	UTSW	5	121,990,794 (GRCm39)	missense	possibly damaging	0.53
R7317:Pheta1	UTSW	5	121,991,336 (GRCm39)	missense	possibly damaging	0.53
R8814:Pheta1	UTSW	5	121,991,108 (GRCm39)	missense	probably benign	0.00
R9428:Pheta1	UTSW	5	121,991,147 (GRCm39)	missense	possibly damaging	0.58
R9491:Pheta1	UTSW	5	121,991,051 (GRCm39)	missense	probably benign	0.01
Z1176:Pheta1	UTSW	5	121,990,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTTGACCCAGAGACCCAAGGAG -3'
(R):5'- AAGCACCCTCAGGTTCACGTTC -3'

Sequencing Primer
(F):5'- AGTGTGGAGCACGCTGC -3'
(R):5'- TCTCAGAAGTAAGTGCCTCTGAC -3'

Posted On

2014-08-01