Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Phtf2'

544654

Institutional Source

Beutler Lab

Gene Symbol

Phtf2

Ensembl Gene

ENSMUSG00000039987

Gene Name

putative homeodomain transcription factor 2

Synonyms

1110054G21Rik, 9530062N20Rik

MMRRC Submission

045108-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20963662-21087122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20999399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 248 (V248A)

Ref Sequence

ENSEMBL: ENSMUSP00000114087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118174]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000118174
AA Change: V248A

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: V248A

Domain	Start	End	E-Value	Type
Pfam:Phtf-FEM1B_bdg	5	154	1.3e-76	PFAM
low complexity region	340	359	N/A	INTRINSIC
transmembrane domain	457	479	N/A	INTRINSIC
transmembrane domain	511	533	N/A	INTRINSIC
transmembrane domain	596	618	N/A	INTRINSIC
transmembrane domain	628	647	N/A	INTRINSIC
transmembrane domain	715	737	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140147

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,490 (GRCm39)	I275N	probably damaging	Het
Actr3b	A	C	5: 26,003,461 (GRCm39)	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,453,662 (GRCm39)	Q160*	probably null	Het
Adgrv1	C	T	13: 81,670,223 (GRCm39)		probably null	Het
Akr1c6	A	G	13: 4,504,514 (GRCm39)	N300D	probably benign	Het
Alox8	T	C	11: 69,082,416 (GRCm39)	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,354,768 (GRCm39)	N40S	probably benign	Het
Ap2a2	A	G	7: 141,209,109 (GRCm39)	N767S	probably benign	Het
Armc3	T	C	2: 19,274,839 (GRCm39)	I358T	probably damaging	Het
Atg2b	A	G	12: 105,620,508 (GRCm39)	S732P	probably benign	Het
Atp12a	A	G	14: 56,610,837 (GRCm39)	Y327C	possibly damaging	Het
Bcr	T	C	10: 74,897,393 (GRCm39)	V179A	probably benign	Het
Cep104	T	C	4: 154,078,018 (GRCm39)	L642P	probably benign	Het
Clspn	T	A	4: 126,486,513 (GRCm39)	S1302R	possibly damaging	Het
Cmip	T	C	8: 118,111,727 (GRCm39)	F153L	probably benign	Het
Cplane1	T	G	15: 8,258,246 (GRCm39)	L2164R	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,521 (GRCm39)	D97G	probably damaging	Het
Dok7	A	T	5: 35,236,899 (GRCm39)	T396S	probably benign	Het
Dsel	C	T	1: 111,788,025 (GRCm39)	V837I	probably benign	Het
Etl4	C	T	2: 20,810,695 (GRCm39)	T926I	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gpr155	A	G	2: 73,173,961 (GRCm39)	I816T	probably damaging	Het
Hpn	C	T	7: 30,810,367 (GRCm39)		probably benign	Het
Inpp5e	A	G	2: 26,287,877 (GRCm39)	S640P	probably benign	Het
Irs3	C	T	5: 137,643,539 (GRCm39)	V82I	probably benign	Het
Kif16b	A	C	2: 142,600,749 (GRCm39)	D461E	possibly damaging	Het
Krba1	A	G	6: 48,390,014 (GRCm39)	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,243,024 (GRCm39)	S369T	possibly damaging	Het
Lrrc4b	C	T	7: 44,094,580 (GRCm39)	P83S	probably damaging	Het
Mplkipl1	A	G	19: 61,164,319 (GRCm39)	S39P	possibly damaging	Het
Neil3	T	C	8: 54,054,001 (GRCm39)	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,246,805 (GRCm39)	Y347C	probably damaging	Het
Or1j1	A	G	2: 36,703,047 (GRCm39)	I19T	possibly damaging	Het
Or2d3b	A	T	7: 106,514,319 (GRCm39)	T305S	probably benign	Het
Or2f2	C	T	6: 42,767,399 (GRCm39)	T142I	probably benign	Het
Or8g26	A	T	9: 39,096,239 (GRCm39)	Y255F	probably benign	Het
P2rx5	T	C	11: 73,058,800 (GRCm39)		probably null	Het
Plekhd1	T	C	12: 80,768,734 (GRCm39)	C406R	possibly damaging	Het
Plod3	T	A	5: 137,018,498 (GRCm39)	N245K	probably damaging	Het
Polr3c	G	T	3: 96,630,954 (GRCm39)	H155Q	possibly damaging	Het
Psap	T	A	10: 60,135,276 (GRCm39)	C317S	probably damaging	Het
Rif1	A	G	2: 51,967,001 (GRCm39)	I97V	probably benign	Het
Rnf123	T	A	9: 107,940,882 (GRCm39)		probably null	Het
Rnf19a	G	A	15: 36,254,650 (GRCm39)	R303*	probably null	Het
Sdk1	G	A	5: 142,082,489 (GRCm39)	V1036I	probably benign	Het
Shc3	T	A	13: 51,620,588 (GRCm39)	Y146F	probably benign	Het
Skint6	A	G	4: 112,963,109 (GRCm39)	Y441H	probably benign	Het
Slc7a12	T	C	3: 14,570,580 (GRCm39)	I173T	probably damaging	Het
Spesp1	A	T	9: 62,189,302 (GRCm39)	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,545,939 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,693,479 (GRCm39)	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,795,904 (GRCm39)	L45Q	probably damaging	Het
Ube3a	C	T	7: 58,926,188 (GRCm39)	T322I	probably damaging	Het
Vac14	T	A	8: 111,439,430 (GRCm39)	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,723,416 (GRCm39)	M286V	probably null	Het
Zfp658	A	G	7: 43,224,172 (GRCm39)	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,499,188 (GRCm39)	M1T	probably null	Het

Other mutations in Phtf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Phtf2	APN	5	20,987,265 (GRCm39)	unclassified	probably benign
IGL01789:Phtf2	APN	5	20,999,372 (GRCm39)	missense	probably benign	0.00
IGL01816:Phtf2	APN	5	21,008,274 (GRCm39)	missense	probably damaging	1.00
IGL02266:Phtf2	APN	5	21,010,797 (GRCm39)	missense	probably damaging	1.00
IGL02295:Phtf2	APN	5	21,012,428 (GRCm39)	missense	probably damaging	1.00
IGL03086:Phtf2	APN	5	20,969,273 (GRCm39)	missense	probably damaging	0.99
IGL03179:Phtf2	APN	5	20,987,397 (GRCm39)	missense	probably damaging	1.00
IGL03192:Phtf2	APN	5	20,966,717 (GRCm39)	missense	probably damaging	0.99
IGL03256:Phtf2	APN	5	21,008,250 (GRCm39)	missense	probably damaging	0.98
PIT4480001:Phtf2	UTSW	5	21,018,242 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Phtf2	UTSW	5	21,006,904 (GRCm39)	missense	probably damaging	0.96
R0589:Phtf2	UTSW	5	21,018,249 (GRCm39)	nonsense	probably null
R1732:Phtf2	UTSW	5	20,994,625 (GRCm39)	critical splice donor site	probably null
R3151:Phtf2	UTSW	5	20,970,802 (GRCm39)	missense	probably damaging	1.00
R3791:Phtf2	UTSW	5	20,987,296 (GRCm39)	missense	probably damaging	1.00
R3843:Phtf2	UTSW	5	20,979,020 (GRCm39)	missense	probably damaging	1.00
R4080:Phtf2	UTSW	5	21,018,294 (GRCm39)	missense	probably damaging	1.00
R4569:Phtf2	UTSW	5	20,994,593 (GRCm39)	intron	probably benign
R4627:Phtf2	UTSW	5	20,978,738 (GRCm39)	missense	probably damaging	1.00
R4901:Phtf2	UTSW	5	21,010,722 (GRCm39)	missense	possibly damaging	0.73
R5131:Phtf2	UTSW	5	20,979,050 (GRCm39)	missense	probably damaging	1.00
R5276:Phtf2	UTSW	5	20,977,195 (GRCm39)	missense	probably benign	0.19
R5871:Phtf2	UTSW	5	20,999,399 (GRCm39)	missense	probably benign	0.16
R5941:Phtf2	UTSW	5	20,979,071 (GRCm39)	missense	probably damaging	0.98
R5964:Phtf2	UTSW	5	20,980,932 (GRCm39)	missense	probably damaging	1.00
R6318:Phtf2	UTSW	5	21,006,939 (GRCm39)	missense	probably damaging	1.00
R6621:Phtf2	UTSW	5	21,017,954 (GRCm39)	intron	probably benign
R6684:Phtf2	UTSW	5	21,017,937 (GRCm39)	critical splice donor site	probably benign
R7253:Phtf2	UTSW	5	20,970,856 (GRCm39)	missense	possibly damaging	0.73
R7566:Phtf2	UTSW	5	20,970,799 (GRCm39)	missense	probably damaging	1.00
R7654:Phtf2	UTSW	5	20,987,459 (GRCm39)	missense	probably damaging	0.99
R8117:Phtf2	UTSW	5	21,007,038 (GRCm39)	missense	probably benign	0.30
R8514:Phtf2	UTSW	5	21,007,030 (GRCm39)	missense	possibly damaging	0.49
R8921:Phtf2	UTSW	5	21,008,275 (GRCm39)	missense	probably benign	0.00
R8975:Phtf2	UTSW	5	20,969,249 (GRCm39)	missense	probably damaging	1.00
R9028:Phtf2	UTSW	5	20,999,373 (GRCm39)	missense	probably benign
R9164:Phtf2	UTSW	5	21,008,190 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAGCAGCTACTCCATCACTC -3'
(R):5'- TCCCACAGCCCAGGTAATTAAG -3'

Sequencing Primer
(F):5'- ATCACTCCACGCTGGCAG -3'
(R):5'- ACAGCCCAGGTAATTAAGACTAAG -3'

Posted On

2019-05-13