Mutagenetix > Incidental Mutations

Incidental Mutation 'R5321:Phtf1'

406101

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

042904-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5321 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103968110-104024598 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 104003511 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 606 (T606I)

Ref Sequence

ENSEMBL: ENSMUSP00000088184 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000055425
AA Change: T598I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: T598I

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: T651I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: T651I

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: T606I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: T606I

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: T651I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: T651I

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: T651I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: T651I

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,327,825	F72L	probably benign	Het
Btrc	G	A	19: 45,507,758	V211M	probably damaging	Het
Col6a5	A	T	9: 105,928,465	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,707,230	Y109C	probably benign	Het
Dlec1	T	A	9: 119,112,601	S352T	probably benign	Het
Dzip3	T	G	16: 48,957,675	T349P	possibly damaging	Het
Endou	A	G	15: 97,721,032	V37A	probably damaging	Het
Exosc1	A	T	19: 41,924,060	C129*	probably null	Het
Flywch1	C	G	17: 23,756,651	R539P	probably damaging	Het
Gm14410	G	A	2: 177,193,505	T322I	probably damaging	Het
Gm340	G	T	19: 41,585,204	W799C	probably damaging	Het
Lpin2	G	A	17: 71,246,858	V857M	probably damaging	Het
Olfr629	T	C	7: 103,740,655	N195S	probably damaging	Het
Patl1	A	G	19: 11,921,421	Q160R	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,519,170	S207G	unknown	Het
Slc15a5	G	T	6: 137,987,438	N496K	probably benign	Het
Slc17a2	A	T	13: 23,812,631	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,478,094	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,425,658	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,487,215	C35R	probably damaging	Het
Tpte	A	T	8: 22,297,203	R33*	probably null	Het
Trpv2	T	A	11: 62,584,571	L270H	probably damaging	Het
Utp18	A	G	11: 93,866,434	L468P	probably damaging	Het
Uxs1	A	G	1: 43,805,645	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,432,442	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,956,197	L112*	probably null	Het
Vmn1r5	T	C	6: 56,985,607	L89P	probably damaging	Het
Vmn2r10	G	T	5: 108,995,639	A815E	probably damaging	Het
Zfp119a	A	T	17: 55,865,595	L416H	probably damaging	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
R0620:Phtf1	UTSW	3	103993765	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCTCTTGTCCTTTGAGG -3'
(R):5'- GTGTTACACTCATTTTAGATGCAGG -3'

Sequencing Primer
(F):5'- CCTTTGAGGAAACTGTAGATTGC -3'
(R):5'- CACTCATTTTAGATGCAGGAGAAAG -3'

Posted On

2016-07-22