Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Phtf2'

695910

Institutional Source

Beutler Lab

Gene Symbol

Phtf2

Ensembl Gene

ENSMUSG00000039987

Gene Name

putative homeodomain transcription factor 2

Synonyms

1110054G21Rik, 9530062N20Rik

MMRRC Submission

068944-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20963662-21087122 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 21008190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 164 (R164*)

Ref Sequence

ENSEMBL: ENSMUSP00000114087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118174] [ENSMUST00000156044]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000118174
AA Change: R164*

SMART Domains

Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: R164*

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

probably benign
Transcript: ENSMUST00000156044

SMART Domains

Protein: ENSMUSP00000120222
Gene: ENSMUSG00000039987

Domain	Start	End	E-Value	Type
Pfam:Phtf-FEM1B_bdg	3	46	3.6e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,278,157 (GRCm39)	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,541,829 (GRCm39)	T847I	possibly damaging	Het
Acox1	A	T	11: 116,089,173 (GRCm39)	H48Q	probably benign	Het
Adam9	A	G	8: 25,486,795 (GRCm39)	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,511,204 (GRCm39)	Y388H	probably damaging	Het
Arap1	A	T	7: 101,041,090 (GRCm39)	K593*	probably null	Het
Bicc1	G	A	10: 70,781,094 (GRCm39)	T661M	probably damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Celf1	T	A	2: 90,831,426 (GRCm39)	L85H	probably damaging	Het
Cep120	A	T	18: 53,852,318 (GRCm39)	M520K	probably benign	Het
Cfap91	A	G	16: 38,155,960 (GRCm39)	Y88H	possibly damaging	Het
Chd1l	C	T	3: 97,501,356 (GRCm39)	R230H	probably benign	Het
Cyp2c55	A	T	19: 38,995,571 (GRCm39)	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,545,609 (GRCm39)	H167L	unknown	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dock4	T	A	12: 40,754,337 (GRCm39)	I442N	probably damaging	Het
Dpp6	T	C	5: 27,656,286 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,180,308 (GRCm39)	C1960R	probably damaging	Het
Gm13941	T	C	2: 110,936,324 (GRCm39)	S2G	unknown	Het
Gm37240	T	C	3: 84,417,248 (GRCm39)	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,531,283 (GRCm39)	I350V	unknown	Het
Gtf3c4	A	G	2: 28,724,661 (GRCm39)	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106 (GRCm39)	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,660,689 (GRCm39)	D28G	probably benign	Het
Intu	A	T	3: 40,645,133 (GRCm39)	D508V	probably damaging	Het
Kif28	A	T	1: 179,533,333 (GRCm39)	M604K	probably damaging	Het
Klra6	T	A	6: 129,993,687 (GRCm39)	I195F	possibly damaging	Het
Lhfpl6	G	A	3: 52,950,887 (GRCm39)	V54I	probably benign	Het
Lrpap1	T	C	5: 35,262,923 (GRCm39)	Y38C	probably damaging	Het
Map1b	T	A	13: 99,562,351 (GRCm39)	Q2453L	unknown	Het
Map1b	C	A	13: 99,568,816 (GRCm39)	E1302*	probably null	Het
Map7	C	T	10: 20,122,410 (GRCm39)	R159C	probably benign	Het
Mov10l1	C	T	15: 88,896,361 (GRCm39)	T735I	probably benign	Het
Nfasc	C	A	1: 132,562,544 (GRCm39)	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,839,969 (GRCm39)	V230A	probably benign	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or7e166	T	A	9: 19,624,954 (GRCm39)	M277K	probably benign	Het
Or7e169	T	A	9: 19,757,504 (GRCm39)	N137I	possibly damaging	Het
Orm3	T	C	4: 63,274,809 (GRCm39)	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,631,852 (GRCm39)	V549E	probably damaging	Het
Pclo	T	A	5: 14,731,699 (GRCm39)	S274R		Het
Phactr1	A	G	13: 42,836,178 (GRCm39)	D2G	possibly damaging	Het
Prkcq	A	G	2: 11,231,716 (GRCm39)	D13G	probably damaging	Het
Proser1	A	T	3: 53,379,494 (GRCm39)	N156I	probably benign	Het
Prss51	T	C	14: 64,334,958 (GRCm39)	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,546,640 (GRCm39)	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,404,222 (GRCm39)	D681G	possibly damaging	Het
Rigi	T	A	4: 40,208,827 (GRCm39)	M762L	probably damaging	Het
Slc7a12	A	T	3: 14,564,360 (GRCm39)	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,235,312 (GRCm39)	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,057,897 (GRCm39)	A11E	probably benign	Het
Spag1	A	T	15: 36,216,399 (GRCm39)	Y526F	probably damaging	Het
Stim1	A	G	7: 102,084,626 (GRCm39)	H526R	probably benign	Het
Stx1b	T	C	7: 127,414,159 (GRCm39)	K69R	probably benign	Het
Tal1	T	C	4: 114,920,646 (GRCm39)	S107P	probably benign	Het
Tas2r130	T	C	6: 131,606,975 (GRCm39)	I273M	probably damaging	Het
Ttc24	A	T	3: 87,980,295 (GRCm39)	Y135*	probably null	Het
Ttn	G	A	2: 76,583,856 (GRCm39)	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,364,087 (GRCm39)	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,221,669 (GRCm39)	*850C	probably null	Het
Vwf	T	A	6: 125,542,806 (GRCm39)	I94N		Het
Zan	A	T	5: 137,422,333 (GRCm39)	S2762T	unknown	Het
Zbtb20	A	G	16: 43,430,764 (GRCm39)	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,259,374 (GRCm39)	Y1649H	probably benign	Het
Zfp397	A	T	18: 24,089,828 (GRCm39)	Q111L	probably damaging	Het
Zfp616	T	A	11: 73,975,825 (GRCm39)	I698N	probably damaging	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
R7003:Phtf2	UTSW	5	20,999,399 (GRCm39)	missense	probably benign	0.16
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

Predicted Primers

PCR Primer
(F):5'- TCCAGGTTTATCGGAAAGAGCTAC -3'
(R):5'- CTCCATTTGTAGTTGCTGCAATAG -3'

Sequencing Primer
(F):5'- ATGGACCTAAGTTCAGTTCCCAG -3'
(R):5'- GCTGCAATAGTATTATTCTGTTCCG -3'

Posted On

2022-02-07