Mutagenetix > Incidental Mutation

Incidental Mutation 'R8514:Phtf2'

656021

Institutional Source

Beutler Lab

Gene Symbol

Phtf2

Ensembl Gene

ENSMUSG00000039987

Gene Name

putative homeodomain transcription factor 2

Synonyms

1110054G21Rik, 9530062N20Rik

MMRRC Submission

067945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8514 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20963662-21087122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21007030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 178 (R178G)

Ref Sequence

ENSEMBL: ENSMUSP00000114087 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118174
AA Change: R178G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: R178G

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (49/51)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcam	A	G	7: 19,492,466 (GRCm39)	V543A	probably damaging	Het
Calhm6	G	A	10: 34,002,399 (GRCm39)	T228I	possibly damaging	Het
Capn1	T	C	19: 6,047,854 (GRCm39)	E403G	probably damaging	Het
Casp12	T	C	9: 5,352,735 (GRCm39)	F186L	probably damaging	Het
Ccdc40	A	G	11: 119,121,459 (GRCm39)	Q13R	unknown	Het
Cip2a	T	C	16: 48,817,810 (GRCm39)	V60A	possibly damaging	Het
Ckap2l	G	T	2: 129,127,788 (GRCm39)	A130E	possibly damaging	Het
Creld1	C	T	6: 113,469,830 (GRCm39)	R411C	probably damaging	Het
Dock9	A	T	14: 121,896,199 (GRCm39)	S167T	probably benign	Het
Emc10	G	T	7: 44,142,646 (GRCm39)	Q99K	probably damaging	Het
Fryl	T	A	5: 73,242,699 (GRCm39)	I1287L	probably benign	Het
Gjc3	T	A	5: 137,955,772 (GRCm39)	Y171F	probably damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTG	1: 88,431,042 (GRCm39)		probably benign	Het
Golga4	T	C	9: 118,384,864 (GRCm39)	V662A	possibly damaging	Het
Gpr33	A	G	12: 52,070,181 (GRCm39)	V286A	probably benign	Het
Htr1d	A	G	4: 136,170,650 (GRCm39)	E293G	probably damaging	Het
Ints6	A	G	14: 62,933,166 (GRCm39)	V847A	possibly damaging	Het
Iqsec3	A	G	6: 121,390,521 (GRCm39)	C317R	unknown	Het
Mdn1	T	A	4: 32,739,857 (GRCm39)	Y3704N	probably damaging	Het
Micall2	C	A	5: 139,701,977 (GRCm39)	R422L	probably damaging	Het
Mndal	T	C	1: 173,687,758 (GRCm39)	D492G	possibly damaging	Het
Myom2	C	T	8: 15,175,153 (GRCm39)	P1244L	possibly damaging	Het
Notch1	A	G	2: 26,362,181 (GRCm39)	C1025R	probably damaging	Het
Nthl1	G	A	17: 24,853,089 (GRCm39)	V98M	probably damaging	Het
Or12e10	A	T	2: 87,641,054 (GRCm39)	I297F	probably damaging	Het
Or4a15	T	C	2: 89,193,573 (GRCm39)	I67V	probably benign	Het
Pank3	A	G	11: 35,667,186 (GRCm39)	D101G	probably null	Het
Pitrm1	T	C	13: 6,618,822 (GRCm39)		probably null	Het
Platr25	T	C	13: 62,848,586 (GRCm39)	Y92C	probably damaging	Het
Plpp1	A	T	13: 112,971,462 (GRCm39)	D43V	probably damaging	Het
Prg4	G	A	1: 150,330,396 (GRCm39)	T759I	unknown	Het
Pros1	A	G	16: 62,730,472 (GRCm39)	T321A	probably benign	Het
Rad50	G	A	11: 53,569,766 (GRCm39)	Q882*	probably null	Het
Rasa3	A	C	8: 13,631,322 (GRCm39)	F533V	probably benign	Het
Rgs18	T	A	1: 144,629,765 (GRCm39)	I165F	probably damaging	Het
Rtl1	C	T	12: 109,560,307 (GRCm39)	V511I	possibly damaging	Het
Sdc3	A	G	4: 130,546,072 (GRCm39)	T144A	unknown	Het
Slc9a9	T	C	9: 94,818,418 (GRCm39)	F271L	probably benign	Het
Snrpa1	G	A	7: 65,720,381 (GRCm39)	G195R	probably benign	Het
Spata31e5	C	T	1: 28,817,586 (GRCm39)	V149M	probably damaging	Het
Tcerg1	T	A	18: 42,697,187 (GRCm39)	D759E	probably damaging	Het
Tecta	A	G	9: 42,284,406 (GRCm39)	L893P	probably damaging	Het
Tex101	T	A	7: 24,367,957 (GRCm39)	Q167L	possibly damaging	Het
Tnrc6a	C	T	7: 122,783,438 (GRCm39)	R970*	probably null	Het
Trmt1l	T	C	1: 151,329,742 (GRCm39)	S562P	probably damaging	Het
Tut4	T	A	4: 108,414,554 (GRCm39)	W44R	possibly damaging	Het
Ubn1	A	G	16: 4,891,263 (GRCm39)	E546G	probably damaging	Het
Usp38	T	A	8: 81,712,346 (GRCm39)	Q563L	probably benign	Het
Vmn1r1	C	T	1: 181,985,138 (GRCm39)	V176I	probably benign	Het
Vmn2r1	A	G	3: 63,993,942 (GRCm39)	K96R	probably benign	Het
Vmn2r62	A	G	7: 42,413,992 (GRCm39)	V817A	probably benign	Het
Wdfy3	A	T	5: 101,999,219 (GRCm39)	C3066S	possibly damaging	Het
Yeats4	T	C	10: 117,051,660 (GRCm39)	E199G	possibly 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
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'- GAGGCTGCCATATTTCAAGTC -3'
(R):5'- GCACCATAATGCATGTTTCACATTC -3'

Sequencing Primer
(F):5'- GAAAAGGAACAGAGCATCTTTATGTC -3'
(R):5'- ATGCATGTTTCACATTCTGTCTAG -3'

Posted On

2020-10-20