Mutagenetix > Incidental Mutations

Incidental Mutation 'R0620:Phtf1'

58585

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

038809-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103968110-104024598 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103993765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 377 (T377A)

Ref Sequence

ENSEMBL: ENSMUSP00000114722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000123611] [ENSMUST00000145727] [ENSMUST00000150849]

AlphaFold

Q9QZ09

Predicted Effect

probably damaging
Transcript: ENSMUST00000055425
AA Change: T324A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: T324A

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: T377A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: T377A

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: T332A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: T332A

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: T377A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: T377A

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

noncoding transcript
Transcript: ENSMUST00000130385

Predicted Effect

probably damaging
Transcript: ENSMUST00000145727
AA Change: T377A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: T377A

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

Meta Mutation Damage Score

0.1328

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	A	T	6: 149,328,375	Q973L	probably damaging	Het
Adamts9	T	C	6: 92,858,113	T679A	possibly damaging	Het
Ahr	T	C	12: 35,508,194	T276A	probably benign	Het
Akap9	A	T	5: 4,064,136	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,432,689	F7I	probably benign	Het
B3galt2	A	G	1: 143,646,140	R5G	probably damaging	Het
Bod1l	T	C	5: 41,801,233	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,396	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,957,717		probably null	Het
Cst7	T	A	2: 150,575,886		probably benign	Het
Defb30	A	T	14: 63,049,763		probably benign	Het
Dido1	C	T	2: 180,659,851	G2087S	probably benign	Het
Dio2	A	G	12: 90,738,071	Y72H	probably benign	Het
Dnah11	C	T	12: 117,987,469	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,503,249	K287E	possibly damaging	Het
Dnajc11	G	A	4: 151,973,628	V244I	possibly damaging	Het
Ect2	C	T	3: 27,139,652	A226T	probably damaging	Het
Ercc8	G	A	13: 108,174,061		probably null	Het
Fam120b	T	A	17: 15,402,927	M389K	probably benign	Het
Fam151a	A	G	4: 106,747,931	M497V	probably benign	Het
Fam186b	C	A	15: 99,280,128	G439V	probably benign	Het
Fank1	A	G	7: 133,876,765	Y185C	probably damaging	Het
Gart	T	C	16: 91,630,602		probably benign	Het
Glb1l	T	C	1: 75,199,720	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,658,437	A164T	unknown	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,859,693	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,137,960	T144M	probably damaging	Het
Haus6	A	T	4: 86,583,514	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,594,016	T4971S	probably benign	Het
Ints6	A	T	14: 62,696,759	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330	M650K	probably damaging	Het
Kif21b	T	C	1: 136,159,428	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,614,635	Q176H	possibly damaging	Het
Ky	T	C	9: 102,537,621	V244A	probably benign	Het
Mia2	T	A	12: 59,154,419	L191M	possibly damaging	Het
Miga2	T	A	2: 30,381,744		probably benign	Het
Mtss1l	C	T	8: 110,737,948	P322S	probably damaging	Het
Nalcn	A	G	14: 123,299,141		probably benign	Het
Ncbp3	T	A	11: 73,049,845		probably benign	Het
Nprl3	G	A	11: 32,234,876	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,846,821	M184L	probably benign	Het
Olfr311	T	G	11: 58,841,443	C110G	probably damaging	Het
Olfr738	G	T	14: 50,413,697	C51F	probably benign	Het
Osbpl9	T	C	4: 109,083,128	E287G	probably damaging	Het
Parva	T	C	7: 112,576,411	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,421,811	Q65*	probably null	Het
Pkp4	G	A	2: 59,322,643	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,287,654	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092		probably benign	Het
Pole2	A	C	12: 69,209,879	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,684,018	F586L	probably benign	Het
Prrx1	G	A	1: 163,257,816	R182C	probably damaging	Het
Ptprs	A	G	17: 56,429,103	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 91,919,817		probably benign	Het
Riox2	T	C	16: 59,491,892	V464A	probably benign	Het
Robo2	A	G	16: 73,967,802	V646A	possibly damaging	Het
Ros1	T	A	10: 52,118,348	I1279F	probably damaging	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Snx7	T	C	3: 117,846,675	N62D	probably damaging	Het
Sp100	G	A	1: 85,659,867		probably null	Het
Stil	A	T	4: 115,007,159	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,209,038	D170V	probably benign	Het
Tmem2	T	A	19: 21,817,971	S743T	probably benign	Het
Trappc13	G	A	13: 104,161,081	T105M	probably damaging	Het
Trhr	T	A	15: 44,229,500	S378T	probably benign	Het
Ttc7b	T	C	12: 100,500,073		probably null	Het
Vegfc	A	T	8: 54,157,139	Y110F	probably benign	Het
Vmn1r184	C	A	7: 26,267,177	P116H	possibly damaging	Het
Vmn2r5	A	T	3: 64,503,814	C444*	probably null	Het
Zfp341	A	G	2: 154,634,273	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,616,444	V41E	probably benign	Het

Other mutations in Phtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Phtf1	APN	3	103988667	missense	probably benign
IGL01139:Phtf1	APN	3	104005602	missense	probably damaging	1.00
IGL01677:Phtf1	APN	3	103998783	missense	probably damaging	1.00
IGL02169:Phtf1	APN	3	103997499	missense	probably benign
IGL02542:Phtf1	APN	3	103993906	splice site	probably benign
IGL02557:Phtf1	APN	3	103998765	missense	probably damaging	1.00
IGL02697:Phtf1	APN	3	103997563	missense	probably benign
IGL02807:Phtf1	APN	3	103997553	missense	probably benign	0.00
R0140:Phtf1	UTSW	3	103987560	missense	probably null	1.00
R0555:Phtf1	UTSW	3	104004469	missense	probably damaging	1.00
R1480:Phtf1	UTSW	3	103987434	nonsense	probably null
R1799:Phtf1	UTSW	3	103996642	missense	probably benign	0.01
R1804:Phtf1	UTSW	3	103987567	unclassified	probably benign
R1921:Phtf1	UTSW	3	103969122	nonsense	probably null
R1943:Phtf1	UTSW	3	103993882	nonsense	probably null
R2006:Phtf1	UTSW	3	104004483	critical splice donor site	probably null
R3729:Phtf1	UTSW	3	103985779	missense	probably benign	0.00
R3731:Phtf1	UTSW	3	103985779	missense	probably benign	0.00
R4051:Phtf1	UTSW	3	104005508	missense	possibly damaging	0.92
R4210:Phtf1	UTSW	3	104003603	critical splice donor site	probably null
R4211:Phtf1	UTSW	3	104003603	critical splice donor site	probably null
R4730:Phtf1	UTSW	3	103987435	missense	probably damaging	1.00
R4982:Phtf1	UTSW	3	103998708	missense	probably damaging	1.00
R5314:Phtf1	UTSW	3	103999287	missense	probably damaging	1.00
R5321:Phtf1	UTSW	3	104003511	missense	probably benign	0.31
R5499:Phtf1	UTSW	3	103991175	missense	probably benign	0.00
R6134:Phtf1	UTSW	3	104004405	missense	probably damaging	0.99
R6603:Phtf1	UTSW	3	103993873	missense	probably damaging	1.00
R7242:Phtf1	UTSW	3	103998696	missense	probably damaging	0.99
R7311:Phtf1	UTSW	3	103997664	missense	possibly damaging	0.64
R7519:Phtf1	UTSW	3	103969119	missense	probably damaging	1.00
R7601:Phtf1	UTSW	3	103993845	missense	probably benign	0.03
R7657:Phtf1	UTSW	3	103969113	missense	probably benign	0.00
R8354:Phtf1	UTSW	3	104004449	missense	probably damaging	1.00
R8454:Phtf1	UTSW	3	104004449	missense	probably damaging	1.00
R8669:Phtf1	UTSW	3	104003476	missense	probably benign	0.39
R9020:Phtf1	UTSW	3	103991378	nonsense	probably null
R9295:Phtf1	UTSW	3	103997577	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTTGCCAGCAAATACCATGACT -3'
(R):5'- TGCTTTAGTTCTgtttctgacgcca -3'

Sequencing Primer
(F):5'- CTAGATCTGGTATGAGTGGTGGC -3'
(R):5'- caagagaaaaaccccacagac -3'

Posted On

2013-07-11