Mutagenetix > Incidental Mutation

Incidental Mutation 'R1799:Phtf1'

202905

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

039829-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1799 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103875426-103914806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103903958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 436 (E436G)

Ref Sequence

ENSEMBL: ENSMUSP00000114722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000145727] [ENSMUST00000150849]

AlphaFold

Q9QZ09

Predicted Effect

probably benign
Transcript: ENSMUST00000055425
AA Change: E383G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: E383G

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: E436G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: E436G

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: E391G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: E391G

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: E436G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: E436G

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 benign
Transcript: ENSMUST00000145727
AA Change: E436G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: E436G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,382,435 (GRCm39)	L271P	probably benign	Het
Adamts3	A	C	5: 89,923,280 (GRCm39)	D175E	probably benign	Het
Adcy4	T	C	14: 56,008,929 (GRCm39)	T833A	probably benign	Het
Adgrf5	A	T	17: 43,750,958 (GRCm39)	I508F	probably damaging	Het
Arhgap9	G	T	10: 127,163,593 (GRCm39)	V464L	probably damaging	Het
Atp10a	T	A	7: 58,474,182 (GRCm39)	D1156E	probably damaging	Het
Atp2a1	A	T	7: 126,049,314 (GRCm39)	M576K	probably benign	Het
Atrx	T	C	X: 104,891,235 (GRCm39)	Q1536R	probably damaging	Het
Ccdc141	A	C	2: 76,842,015 (GRCm39)	V1472G	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Celsr1	G	T	15: 85,916,886 (GRCm39)	N362K	probably damaging	Het
Cep290	G	A	10: 100,352,058 (GRCm39)	A755T	probably benign	Het
Cfap70	T	A	14: 20,445,067 (GRCm39)	E1071V	probably damaging	Het
Cps1	T	C	1: 67,248,801 (GRCm39)	V1176A	probably damaging	Het
Csf2rb2	A	C	15: 78,181,268 (GRCm39)	N41K	probably damaging	Het
Csn1s2a	G	A	5: 87,926,052 (GRCm39)	V43M	probably damaging	Het
Cyp26b1	T	C	6: 84,561,254 (GRCm39)	D136G	probably benign	Het
Cyp7b1	A	G	3: 18,151,616 (GRCm39)	L199P	probably benign	Het
Dapk1	C	T	13: 60,867,468 (GRCm39)	T225I	probably damaging	Het
Dio2	T	A	12: 90,696,680 (GRCm39)	T103S	probably benign	Het
Dipk1a	C	A	5: 108,057,713 (GRCm39)	V237F	probably damaging	Het
Dnhd1	T	A	7: 105,304,974 (GRCm39)	S339T	probably benign	Het
Drc1	A	G	5: 30,523,841 (GRCm39)	N737D	probably damaging	Het
Efhc1	C	T	1: 21,049,762 (GRCm39)	P541S	probably benign	Het
Elmo2	A	T	2: 165,134,077 (GRCm39)	I637N	probably damaging	Het
Eps15	T	A	4: 109,240,034 (GRCm39)	D492E	probably damaging	Het
Ermn	G	T	2: 57,938,249 (GRCm39)	N121K	probably benign	Het
F5	A	G	1: 164,021,100 (GRCm39)	T1192A	possibly damaging	Het
Fbxo22	T	C	9: 55,130,771 (GRCm39)	F347L	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Foxj3	A	G	4: 119,476,548 (GRCm39)	N242S	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Grm4	A	G	17: 27,691,914 (GRCm39)	V235A	probably damaging	Het
Gstm4	T	C	3: 107,950,874 (GRCm39)	N74S	probably damaging	Het
Gtf3c3	A	G	1: 54,459,583 (GRCm39)	V393A	possibly damaging	Het
Hltf	T	A	3: 20,159,855 (GRCm39)	L702H	probably damaging	Het
Inpp4a	T	A	1: 37,432,059 (GRCm39)	V153E	possibly damaging	Het
Kmt5c	T	C	7: 4,745,729 (GRCm39)		probably null	Het
Kynu	A	G	2: 43,494,169 (GRCm39)	R201G	possibly damaging	Het
Lrp2	T	A	2: 69,333,874 (GRCm39)	T1456S	probably benign	Het
Lrrc40	G	A	3: 157,742,441 (GRCm39)	V19I	probably benign	Het
M1ap	T	A	6: 82,982,491 (GRCm39)	C258*	probably null	Het
Man2a1	T	C	17: 65,059,452 (GRCm39)	L1113P	probably benign	Het
Man2a1	C	T	17: 64,976,492 (GRCm39)	R427W	probably damaging	Het
Meikin	C	A	11: 54,308,613 (GRCm39)	Q404K	probably benign	Het
Mfsd4a	T	C	1: 131,981,334 (GRCm39)	I222V	possibly damaging	Het
N4bp2	A	G	5: 65,964,168 (GRCm39)	N739S	possibly damaging	Het
Ncoa2	A	T	1: 13,232,517 (GRCm39)		probably null	Het
Nisch	G	T	14: 30,899,228 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,920,447 (GRCm39)	V266A	probably damaging	Het
Npcd	G	A	15: 79,712,987 (GRCm39)	R147C	probably damaging	Het
Or4q3	T	A	14: 50,583,537 (GRCm39)	M121L	probably benign	Het
Or5ac25	T	A	16: 59,182,243 (GRCm39)	I113F	probably benign	Het
Pals2	T	A	6: 50,173,525 (GRCm39)	M463K	probably damaging	Het
Parp4	A	T	14: 56,885,589 (GRCm39)	H1556L	unknown	Het
Pcdh9	G	T	14: 94,126,107 (GRCm39)	A21E	probably benign	Het
Piezo2	C	A	18: 63,165,911 (GRCm39)		probably null	Het
Piezo2	T	C	18: 63,241,158 (GRCm39)	Y690C	probably damaging	Het
Pla2g4f	T	C	2: 120,141,549 (GRCm39)	R183G	possibly damaging	Het
Plxnd1	T	C	6: 115,971,018 (GRCm39)	D250G	probably damaging	Het
Ppig	A	G	2: 69,579,744 (GRCm39)	D426G	unknown	Het
Ppp3cb	T	C	14: 20,574,540 (GRCm39)	E185G	possibly damaging	Het
Qsox1	A	T	1: 155,670,364 (GRCm39)	M151K	probably null	Het
Ralgapa2	T	C	2: 146,184,648 (GRCm39)	E1453G	probably benign	Het
Rnf167	G	A	11: 70,540,838 (GRCm39)	V191I	probably benign	Het
Rp1	T	C	1: 4,419,055 (GRCm39)	K686E	possibly damaging	Het
Ryr1	T	G	7: 28,767,046 (GRCm39)	Q2979P	probably damaging	Het
Scaf1	T	A	7: 44,657,443 (GRCm39)	I479F	probably damaging	Het
Septin8	A	G	11: 53,425,310 (GRCm39)	T68A	probably benign	Het
Sh3rf1	A	T	8: 61,825,661 (GRCm39)	N552I	probably damaging	Het
Shoc1	A	T	4: 59,099,383 (GRCm39)	V103D	possibly damaging	Het
Slc1a3	A	G	15: 8,717,888 (GRCm39)	L68P	probably damaging	Het
Slc39a6	G	A	18: 24,718,524 (GRCm39)	P511L	probably benign	Het
Slc9c1	A	G	16: 45,374,652 (GRCm39)	Y339C	probably damaging	Het
Smarcal1	G	T	1: 72,625,120 (GRCm39)	C89F	probably damaging	Het
Smu1	A	T	4: 40,745,537 (GRCm39)	M261K	probably damaging	Het
Spag8	T	G	4: 43,653,087 (GRCm39)		probably benign	Het
Spag8	T	C	4: 43,653,345 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,216 (GRCm39)	D304G	probably benign	Het
Spdl1	A	T	11: 34,711,856 (GRCm39)	L298*	probably null	Het
Stac2	C	T	11: 97,930,444 (GRCm39)		probably null	Het
Stag1	A	G	9: 100,835,515 (GRCm39)		probably null	Het
Stpg2	C	T	3: 139,125,542 (GRCm39)	P445L	probably damaging	Het
Sult2a8	A	T	7: 14,157,451 (GRCm39)	V128E	probably damaging	Het
Synm	A	G	7: 67,385,707 (GRCm39)	F210L	probably damaging	Het
Tbck	C	G	3: 132,480,263 (GRCm39)	A714G	probably benign	Het
Tcerg1	A	T	18: 42,694,012 (GRCm39)	Y711F	possibly damaging	Het
Tnfrsf25	A	G	4: 152,201,465 (GRCm39)	T98A	probably benign	Het
Togaram2	T	C	17: 71,998,450 (GRCm39)	S218P	probably damaging	Het
Tpp1	A	T	7: 105,399,515 (GRCm39)	D84E	probably benign	Het
Trim30d	G	T	7: 104,132,682 (GRCm39)	Q202K	probably damaging	Het
Trim37	T	A	11: 87,068,845 (GRCm39)	V397E	probably damaging	Het
Triml1	A	T	8: 43,583,512 (GRCm39)	I363N	probably damaging	Het
Trpm6	T	A	19: 18,869,363 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,823,382 (GRCm39)	S1055G	probably benign	Het
Ubr5	T	C	15: 37,989,621 (GRCm39)	D2065G	probably damaging	Het
Uggt2	G	T	14: 119,269,688 (GRCm39)	P948Q	probably benign	Het
Vps13c	A	T	9: 67,851,399 (GRCm39)	S2345C	probably damaging	Het
Wtap	G	T	17: 13,199,771 (GRCm39)	R48S	possibly damaging	Het
Zbtb38	A	G	9: 96,570,934 (GRCm39)	V50A	probably damaging	Het
Zcchc2	T	A	1: 105,958,017 (GRCm39)	S829R	probably benign	Het
Zfp385b	T	C	2: 77,246,316 (GRCm39)	D237G	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
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
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'- ATCCTGGATCCTAGCTATCCTGATG -3'
(R):5'- GCTGCTGGTAAACAAGTCTTCAC -3'

Sequencing Primer
(F):5'- TCCTGATGATAGCTATAAGTGGTTC -3'
(R):5'- CTTCACTGATGAATAGGTCTGCAGC -3'

Posted On

2014-06-23