Mutagenetix > Incidental Mutation

Incidental Mutation 'R9028:Phtf2'

686861

Institutional Source

Beutler Lab

Gene Symbol

Phtf2

Ensembl Gene

ENSMUSG00000039987

Gene Name

putative homeodomain transcription factor 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20758663-20882124 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20794375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 257 (Y257H)

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: Y257H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114087
Gene: ENSMUSG00000039987
AA Change: Y257H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	G	A	3: 108,463,503	T687I	probably benign	Het
Aasdh	A	G	5: 76,876,130	V1066A	probably damaging	Het
Abca5	T	A	11: 110,298,078	H851L	probably damaging	Het
Actn2	T	C	13: 12,300,978	I218M	possibly damaging	Het
Afmid	G	A	11: 117,836,663	E338K	probably benign	Het
Amer3	G	A	1: 34,588,677	V666I	probably benign	Het
Apol7b	A	G	15: 77,423,416	V293A	probably damaging	Het
Bag6	T	A	17: 35,144,154	S657T	probably benign	Het
Btaf1	T	C	19: 36,969,108	L438P	probably damaging	Het
Cdc20	T	C	4: 118,436,560	E126G	probably benign	Het
Cep97	C	T	16: 55,919,552	W248*	probably null	Het
Cfap69	A	T	5: 5,646,958	S113T	probably benign	Het
Cgrrf1	C	A	14: 46,853,743	D241E	probably benign	Het
Cnksr1	T	C	4: 134,233,297	T280A	possibly damaging	Het
Cox4i1	T	A	8: 120,671,283		probably benign	Het
Cpm	T	A	10: 117,683,509	F441I	probably benign	Het
Cs	A	C	10: 128,353,083	M154L		Het
Dmrta1	T	A	4: 89,691,677	N291K	probably damaging	Het
Dnah7a	T	C	1: 53,521,138	T2125A	probably benign	Het
Dock10	A	T	1: 80,606,295		probably benign	Het
Dok7	A	G	5: 35,079,475	Y369C	probably damaging	Het
E130311K13Rik	T	C	3: 63,915,548	Y225C	probably damaging	Het
F7	T	C	8: 13,026,087	L10P	possibly damaging	Het
Faf1	C	A	4: 109,890,908	T470K	possibly damaging	Het
Fam83h	A	T	15: 76,003,889	L533Q	possibly damaging	Het
Far1	T	A	7: 113,547,422	V129E	probably damaging	Het
Fgfr4	T	C	13: 55,159,154	Y219H	probably damaging	Het
Fryl	A	T	5: 73,098,266	S807R	probably benign	Het
Gaa	T	A	11: 119,270,381	D83E	probably benign	Het
Gm6970	T	C	19: 47,170,690	K149E	unknown	Het
Grm2	A	G	9: 106,651,185	S167P	possibly damaging	Het
Hibch	T	C	1: 52,853,709	L26P	possibly damaging	Het
Hspa9	T	C	18: 34,942,031	E415G	probably damaging	Het
Ipo4	T	C	14: 55,628,951	Y757C	probably damaging	Het
Itk	T	A	11: 46,344,883		probably benign	Het
Kdm5a	C	T	6: 120,439,131	P1671S	probably benign	Het
Kif13a	G	A	13: 46,798,365	P811S	probably damaging	Het
Kif23	T	C	9: 61,921,059	E857G	probably damaging	Het
Kif2b	A	G	11: 91,577,185	S91P	probably benign	Het
Letm1	G	T	5: 33,752,503	Q396K	probably damaging	Het
Map2k6	T	A	11: 110,497,973	M247K		Het
Mga	A	G	2: 119,947,589	I1872V	probably benign	Het
Mmp15	A	T	8: 95,369,688	N369I	probably benign	Het
Myo3a	T	A	2: 22,600,087	S1487T	possibly damaging	Het
Ncam1	T	C	9: 49,507,436	T855A		Het
Ncoa2	A	G	1: 13,152,855	V1182A	probably benign	Het
Nhlrc3	A	T	3: 53,453,571	C254*	probably null	Het
Nlrp1a	C	T	11: 71,122,993	R477H	probably benign	Het
Nox3	T	A	17: 3,665,910	T407S	possibly damaging	Het
Olfr1229	T	A	2: 89,282,332	D267V	probably damaging	Het
Olfr1375	C	T	11: 51,048,833	T242M	probably damaging	Het
Olfr411	T	C	11: 74,346,921	Y101C	probably damaging	Het
Pfkp	T	A	13: 6,605,689	I303F	probably damaging	Het
Pgc	T	C	17: 47,733,058	Y292H	possibly damaging	Het
Pkdrej	T	C	15: 85,816,897	N1613D	probably damaging	Het
Prpmp5	C	T	6: 132,312,655	E69K	unknown	Het
Rapgef2	A	G	3: 79,074,344	S1115P	probably damaging	Het
Rbpj	A	G	5: 53,649,690	E260G	possibly damaging	Het
Rrm1	T	A	7: 102,460,398	N476K	probably damaging	Het
Slc9a2	T	A	1: 40,726,452	I334N	probably damaging	Het
Slk	T	G	19: 47,620,073	N488K	probably benign	Het
Smarca5	T	C	8: 80,714,013	I607M	probably damaging	Het
Sspo	G	A	6: 48,496,153	V162M	probably benign	Het
Svep1	T	G	4: 58,145,199	Q422P	possibly damaging	Het
Tcn2	C	T	11: 3,922,111	V339I	probably damaging	Het
Tnfrsf19	T	C	14: 61,005,201	H78R	probably benign	Het
Trav14-3	C	A	14: 53,763,430	Q33K	unknown	Het
Ubtd2	T	C	11: 32,499,432	I93T	possibly damaging	Het
Uhrf2	G	A	19: 30,089,344		probably null	Het
Vmn1r224	T	G	17: 20,419,850	S230A	possibly damaging	Het
Wee2	A	T	6: 40,444,255	H93L	probably benign	Het
Zdhhc17	T	C	10: 110,961,073	E279G	probably damaging	Het
Zfp623	T	A	15: 75,947,500	F102I	probably damaging	Het
Zfpm2	A	C	15: 41,103,362	E1081A	possibly damaging	Het
Zscan18	A	T	7: 12,772,189		probably benign	Het

Other mutations in Phtf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Phtf2	APN	5	20782267	unclassified	probably benign
IGL01789:Phtf2	APN	5	20794374	missense	probably benign	0.00
IGL01816:Phtf2	APN	5	20803276	missense	probably damaging	1.00
IGL02266:Phtf2	APN	5	20805799	missense	probably damaging	1.00
IGL02295:Phtf2	APN	5	20807430	missense	probably damaging	1.00
IGL03086:Phtf2	APN	5	20764275	missense	probably damaging	0.99
IGL03179:Phtf2	APN	5	20782399	missense	probably damaging	1.00
IGL03192:Phtf2	APN	5	20761719	missense	probably damaging	0.99
IGL03256:Phtf2	APN	5	20803252	missense	probably damaging	0.98
PIT4480001:Phtf2	UTSW	5	20813244	missense	probably damaging	1.00
PIT4802001:Phtf2	UTSW	5	20801906	missense	probably damaging	0.96
R0589:Phtf2	UTSW	5	20813251	nonsense	probably null
R1732:Phtf2	UTSW	5	20789627	critical splice donor site	probably null
R3151:Phtf2	UTSW	5	20765804	missense	probably damaging	1.00
R3791:Phtf2	UTSW	5	20782298	missense	probably damaging	1.00
R3843:Phtf2	UTSW	5	20774022	missense	probably damaging	1.00
R4080:Phtf2	UTSW	5	20813296	missense	probably damaging	1.00
R4569:Phtf2	UTSW	5	20789595	intron	probably benign
R4627:Phtf2	UTSW	5	20773740	missense	probably damaging	1.00
R4901:Phtf2	UTSW	5	20805724	missense	possibly damaging	0.73
R5131:Phtf2	UTSW	5	20774052	missense	probably damaging	1.00
R5276:Phtf2	UTSW	5	20772197	missense	probably benign	0.19
R5871:Phtf2	UTSW	5	20794401	missense	probably benign	0.16
R5941:Phtf2	UTSW	5	20774073	missense	probably damaging	0.98
R5964:Phtf2	UTSW	5	20775934	missense	probably damaging	1.00
R6318:Phtf2	UTSW	5	20801941	missense	probably damaging	1.00
R6621:Phtf2	UTSW	5	20812956	intron	probably benign
R6684:Phtf2	UTSW	5	20812939	critical splice donor site	probably benign
R7003:Phtf2	UTSW	5	20794401	missense	probably benign	0.16
R7253:Phtf2	UTSW	5	20765858	missense	possibly damaging	0.73
R7566:Phtf2	UTSW	5	20765801	missense	probably damaging	1.00
R7654:Phtf2	UTSW	5	20782461	missense	probably damaging	0.99
R8117:Phtf2	UTSW	5	20802040	missense	probably benign	0.30
R8514:Phtf2	UTSW	5	20802032	missense	possibly damaging	0.49
R8921:Phtf2	UTSW	5	20803277	missense	probably benign	0.00
R8975:Phtf2	UTSW	5	20764251	missense	probably damaging	1.00
R9164:Phtf2	UTSW	5	20803192	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GACATCGACCTGATCTCTAGCG -3'
(R):5'- TTTCTATTGACCCATCCAGAATGAGC -3'

Sequencing Primer
(F):5'- GACCTGATCTCTAGCGTCATGAC -3'
(R):5'- TCCAGAATGAGCTGAGTCCACATG -3'

Posted On

2021-11-19