Mutagenetix > Incidental Mutation

Incidental Mutation 'R8354:Phtf1'

645667

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

067806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8354 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103875426-103914806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103911765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 702 (N702K)

Ref Sequence

ENSEMBL: ENSMUSP00000066607 (fasta)

Gene Model

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

AlphaFold

Q9QZ09

Predicted Effect

probably damaging
Transcript: ENSMUST00000055425
AA Change: N649K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: N649K

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 damaging
Transcript: ENSMUST00000063717
AA Change: N702K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: N702K

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 damaging
Transcript: ENSMUST00000090685
AA Change: N657K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: N657K

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 damaging
Transcript: ENSMUST00000117150
AA Change: N702K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: N702K

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 damaging
Transcript: ENSMUST00000145727
AA Change: N702K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: N702K

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: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,635,103 (GRCm39)	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,616,045 (GRCm39)		probably benign	Het
Agt	G	A	8: 125,290,842 (GRCm39)	T155M	probably benign	Het
Atp8b3	A	G	10: 80,361,633 (GRCm39)	V763A	probably benign	Het
Btn1a1	C	A	13: 23,648,420 (GRCm39)	V138L	probably benign	Het
Cd163	A	T	6: 124,305,924 (GRCm39)	N1109I	probably benign	Het
Cideb	T	A	14: 55,992,598 (GRCm39)	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,130,130 (GRCm39)	T126A	probably benign	Het
Dnai3	T	C	3: 145,802,982 (GRCm39)	K70E	probably damaging	Het
Elfn1	T	C	5: 139,957,226 (GRCm39)	Y77H	probably damaging	Het
Eml3	A	G	19: 8,912,358 (GRCm39)	H386R	probably damaging	Het
Fbxo21	A	G	5: 118,133,479 (GRCm39)	D413G	probably damaging	Het
Fzd1	T	C	5: 4,807,336 (GRCm39)	Q82R	probably benign	Het
Gast	T	C	11: 100,227,394 (GRCm39)	L29P	probably benign	Het
Glb1l2	C	A	9: 26,717,713 (GRCm39)		probably benign	Het
Gm1110	C	G	9: 26,794,576 (GRCm39)	Q483H	probably benign	Het
Gm1110	T	A	9: 26,794,577 (GRCm39)	Q483L	probably benign	Het
Gpc6	T	C	14: 117,163,391 (GRCm39)	L15P	probably damaging	Het
Hagh	C	A	17: 25,076,536 (GRCm39)	S161*	probably null	Het
Hrh1	A	G	6: 114,457,814 (GRCm39)	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,843,560 (GRCm39)	M100K	probably damaging	Het
Itgb8	A	T	12: 119,134,513 (GRCm39)	V518D	probably benign	Het
Krt82	T	C	15: 101,450,238 (GRCm39)	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,810,357 (GRCm39)	S85P	probably damaging	Het
Met	A	G	6: 17,491,768 (GRCm39)	S177G	probably damaging	Het
Myl9	T	A	2: 156,623,048 (GRCm39)	I162N	possibly damaging	Het
Npat	T	A	9: 53,478,251 (GRCm39)	N973K	possibly damaging	Het
Or5p68	A	T	7: 107,945,889 (GRCm39)	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,901,190 (GRCm39)	D674V	possibly damaging	Het
Plaa	A	T	4: 94,457,714 (GRCm39)	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,038,011 (GRCm39)	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 85,691,776 (GRCm39)	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,575,864 (GRCm39)	Q685L	probably benign	Het
Ryr1	C	A	7: 28,715,142 (GRCm39)	G4661C	unknown	Het
Samd13	T	A	3: 146,352,157 (GRCm39)	M65L	probably benign	Het
Sdr42e2	T	A	7: 120,430,403 (GRCm39)	V420E	possibly damaging	Het
Sec22c	A	G	9: 121,524,721 (GRCm39)	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,014,329 (GRCm39)	T431K	probably benign	Het
Sin3b	A	G	8: 73,468,108 (GRCm39)	M277V	probably benign	Het
Sis	T	C	3: 72,854,834 (GRCm39)	T468A	possibly damaging	Het
Slitrk3	T	C	3: 72,956,513 (GRCm39)	N753S	probably benign	Het
Slitrk6	C	A	14: 110,989,478 (GRCm39)	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,870 (GRCm39)	A478T	probably damaging	Het
Styxl2	A	T	1: 165,935,702 (GRCm39)	N165K	probably damaging	Het
Sugp1	C	A	8: 70,524,247 (GRCm39)	Y617*	probably null	Het
Tinag	T	C	9: 76,938,977 (GRCm39)	D167G	probably damaging	Het
Tk2	A	G	8: 104,967,746 (GRCm39)		probably null	Het
Tmem209	A	T	6: 30,489,308 (GRCm39)	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,723,320 (GRCm39)	H260R	probably benign	Het
Tnfrsf14	T	A	4: 155,011,112 (GRCm39)	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,014,553 (GRCm39)	D285E	probably benign	Het
Togaram2	C	G	17: 72,004,873 (GRCm39)	A310G	probably benign	Het
Trpv3	A	G	11: 73,182,448 (GRCm39)	Y544C	probably damaging	Het
Ttl	T	A	2: 128,908,104 (GRCm39)	V13D	probably damaging	Het
Usp40	A	T	1: 87,908,694 (GRCm39)	D602E	probably benign	Het
Vamp5	A	G	6: 72,347,376 (GRCm39)		probably benign	Het
Vmn2r65	T	A	7: 84,589,402 (GRCm39)	H838L	possibly damaging	Het
Vps35l	T	A	7: 118,391,795 (GRCm39)	F493Y	probably benign	Het
Zfp960	T	A	17: 17,308,461 (GRCm39)	Y392N	probably benign	Het

Other mutations in Phtf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Phtf1	APN	3	103,895,983 (GRCm39)	missense	probably benign
IGL01139:Phtf1	APN	3	103,912,918 (GRCm39)	missense	probably damaging	1.00
IGL01677:Phtf1	APN	3	103,906,099 (GRCm39)	missense	probably damaging	1.00
IGL02169:Phtf1	APN	3	103,904,815 (GRCm39)	missense	probably benign
IGL02542:Phtf1	APN	3	103,901,222 (GRCm39)	splice site	probably benign
IGL02557:Phtf1	APN	3	103,906,081 (GRCm39)	missense	probably damaging	1.00
IGL02697:Phtf1	APN	3	103,904,879 (GRCm39)	missense	probably benign
IGL02807:Phtf1	APN	3	103,904,869 (GRCm39)	missense	probably benign	0.00
R0140:Phtf1	UTSW	3	103,894,876 (GRCm39)	missense	probably null	1.00
R0555:Phtf1	UTSW	3	103,911,785 (GRCm39)	missense	probably damaging	1.00
R0620:Phtf1	UTSW	3	103,901,081 (GRCm39)	missense	probably damaging	1.00
R1480:Phtf1	UTSW	3	103,894,750 (GRCm39)	nonsense	probably null
R1799:Phtf1	UTSW	3	103,903,958 (GRCm39)	missense	probably benign	0.01
R1804:Phtf1	UTSW	3	103,894,883 (GRCm39)	unclassified	probably benign
R1921:Phtf1	UTSW	3	103,876,438 (GRCm39)	nonsense	probably null
R1943:Phtf1	UTSW	3	103,901,198 (GRCm39)	nonsense	probably null
R2006:Phtf1	UTSW	3	103,911,799 (GRCm39)	critical splice donor site	probably null
R3729:Phtf1	UTSW	3	103,893,095 (GRCm39)	missense	probably benign	0.00
R3731:Phtf1	UTSW	3	103,893,095 (GRCm39)	missense	probably benign	0.00
R4051:Phtf1	UTSW	3	103,912,824 (GRCm39)	missense	possibly damaging	0.92
R4210:Phtf1	UTSW	3	103,910,919 (GRCm39)	critical splice donor site	probably null
R4211:Phtf1	UTSW	3	103,910,919 (GRCm39)	critical splice donor site	probably null
R4730:Phtf1	UTSW	3	103,894,751 (GRCm39)	missense	probably damaging	1.00
R4982:Phtf1	UTSW	3	103,906,024 (GRCm39)	missense	probably damaging	1.00
R5314:Phtf1	UTSW	3	103,906,603 (GRCm39)	missense	probably damaging	1.00
R5321:Phtf1	UTSW	3	103,910,827 (GRCm39)	missense	probably benign	0.31
R5499:Phtf1	UTSW	3	103,898,491 (GRCm39)	missense	probably benign	0.00
R6134:Phtf1	UTSW	3	103,911,721 (GRCm39)	missense	probably damaging	0.99
R6603:Phtf1	UTSW	3	103,901,189 (GRCm39)	missense	probably damaging	1.00
R7242:Phtf1	UTSW	3	103,906,012 (GRCm39)	missense	probably damaging	0.99
R7311:Phtf1	UTSW	3	103,904,980 (GRCm39)	missense	possibly damaging	0.64
R7519:Phtf1	UTSW	3	103,876,435 (GRCm39)	missense	probably damaging	1.00
R7601:Phtf1	UTSW	3	103,901,161 (GRCm39)	missense	probably benign	0.03
R7657:Phtf1	UTSW	3	103,876,429 (GRCm39)	missense	probably benign	0.00
R8454:Phtf1	UTSW	3	103,911,765 (GRCm39)	missense	probably damaging	1.00
R8669:Phtf1	UTSW	3	103,910,792 (GRCm39)	missense	probably benign	0.39
R9020:Phtf1	UTSW	3	103,898,694 (GRCm39)	nonsense	probably null
R9295:Phtf1	UTSW	3	103,904,893 (GRCm39)	missense	probably benign	0.00
R9682:Phtf1	UTSW	3	103,901,214 (GRCm39)	missense	possibly damaging	0.86
R9798:Phtf1	UTSW	3	103,904,869 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACGCCATGCATCCTAGATG -3'
(R):5'- AAGTTCTCTCGTTCTGACTAGGC -3'

Sequencing Primer
(F):5'- TAGATGCCGAGGCCGTAGATC -3'
(R):5'- TCTGACTAGGCATCCCAGCATG -3'

Posted On

2020-09-02