Mutagenetix > Incidental Mutation

Incidental Mutation 'R8669:Phtf1'

661033

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

068524-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103968110-104024598 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104003476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 639 (N639K)

Ref Sequence

ENSEMBL: ENSMUSP00000066607 (fasta)

Gene Model

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

AlphaFold

Q9QZ09

Predicted Effect

probably benign
Transcript: ENSMUST00000055425
AA Change: N586K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: N586K

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: N639K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: N639K

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: N594K

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: N594K

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: N639K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: N639K

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: N639K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: N639K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,902,460	S305T	probably benign	Het
Ankrd42	A	G	7: 92,619,673	V154A	possibly damaging	Het
Apc2	C	T	10: 80,313,657	T1515I	probably damaging	Het
Blzf1	T	A	1: 164,302,544	N80Y	possibly damaging	Het
Cacna2d1	T	C	5: 15,935,015	M1T	probably null	Het
Ccdc125	T	C	13: 100,696,175	L420P	probably damaging	Het
Ccdc162	T	C	10: 41,552,356	T1976A	probably benign	Het
Cdc20b	C	T	13: 113,071,926	P219S	possibly damaging	Het
Cep89	A	G	7: 35,429,177	D585G	probably benign	Het
Crnn	A	T	3: 93,148,989	R361*	probably null	Het
Defb5	A	G	8: 19,250,745	I38V	probably benign	Het
Defb8	A	G	8: 19,445,957	V29A	probably benign	Het
Dgkh	A	G	14: 78,725,019	V24A	probably benign	Het
Dhrs13	G	C	11: 78,032,666	R70P	possibly damaging	Het
Dnah12	A	T	14: 26,830,625		probably benign	Het
Dsg2	A	G	18: 20,590,075	N386S	probably damaging	Het
Dyrk1a	G	T	16: 94,663,791	R77L	probably damaging	Het
Fbxw19	G	T	9: 109,484,414	L239I	probably benign	Het
Gal3st2b	A	T	1: 93,941,042	I332L	possibly damaging	Het
Gcnt1	T	G	19: 17,329,779	K194T	probably benign	Het
Gm21731	C	A	13: 120,240,802	P45T	probably benign	Het
Gm7298	T	C	6: 121,765,043	W475R	probably benign	Het
Gpatch1	C	A	7: 35,291,779	W613C	probably damaging	Het
Gulp1	T	A	1: 44,766,110	S120T	probably benign	Het
Ift122	C	A	6: 115,923,291	Q946K	probably damaging	Het
Itpr1	T	A	6: 108,393,967	L1065H	probably damaging	Het
Kcnq5	T	C	1: 21,405,826	D579G	probably damaging	Het
Klhl40	T	A	9: 121,778,022	S83T	probably benign	Het
Krt19	T	C	11: 100,141,167	K320E	probably damaging	Het
Krt83	C	A	15: 101,487,896	V273L	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lrp1b	A	G	2: 41,282,035		probably null	Het
Lrrk1	G	A	7: 66,262,596	L1739F	probably benign	Het
Mthfr	A	G	4: 148,051,477	N336D	probably benign	Het
Myo6	T	G	9: 80,266,249	L557R	unknown	Het
Naip2	T	C	13: 100,188,969	S144G	probably benign	Het
Nfatc1	T	C	18: 80,682,191	K453E	probably damaging	Het
Olfr598	A	T	7: 103,329,074	D196V	probably benign	Het
Osm	A	T	11: 4,239,665	I150L	probably benign	Het
Prpf40b	T	A	15: 99,303,347	M1K	probably null	Het
Rhbdl3	G	A	11: 80,353,513	V349M	probably damaging	Het
Senp7	T	C	16: 56,165,952	S582P	probably damaging	Het
Slc16a14	A	G	1: 84,922,884	S127P	probably benign	Het
Slc22a21	C	T	11: 53,979,817	W14*	probably null	Het
Slc6a18	T	A	13: 73,664,311	E553D	probably benign	Het
Speer4a	T	G	5: 26,038,238	N83T	probably damaging	Het
Svep1	T	A	4: 58,070,119	S2556C	possibly damaging	Het
Tc2n	T	C	12: 101,694,592	N127S	probably damaging	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Thra	T	C	11: 98,763,650	V282A	possibly damaging	Het
Tmem161b	A	T	13: 84,272,169		probably null	Het
Tmem218	C	T	9: 37,222,519	A85V	probably benign	Het
Txnip	T	C	3: 96,558,936	Y100H	probably damaging	Het
Unc5c	A	G	3: 141,803,943	D728G	possibly damaging	Het
Zfp462	T	A	4: 55,051,313	I2262K	probably damaging	Het
Zfp804a	A	T	2: 82,257,762	D645V	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
R5321:Phtf1	UTSW	3	104003511	missense	probably benign	0.31
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
R9020:Phtf1	UTSW	3	103991378	nonsense	probably null
R9295:Phtf1	UTSW	3	103997577	missense	probably benign	0.00
R9682:Phtf1	UTSW	3	103993898	missense	possibly damaging	0.86
R9798:Phtf1	UTSW	3	103997553	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTTGAGGAAACTGTAGATTGC -3'
(R):5'- AGTTAAGAACTCGGCCCAGTC -3'

Sequencing Primer
(F):5'- GGAGCACCTTCATAGAGGC -3'
(R):5'- TAAGAACTCGGCCCAGTCCTCTAG -3'

Posted On

2021-03-08