Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Phtf1'

563269

Institutional Source

Beutler Lab

Gene Symbol

Phtf1

Ensembl Gene

ENSMUSG00000058388

Gene Name

putative homeodomain transcription factor 1

Synonyms

Phft

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103875426-103914806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103906012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 565 (S565G)

Ref Sequence

ENSEMBL: ENSMUSP00000066607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055425] [ENSMUST00000063717] [ENSMUST00000090685] [ENSMUST00000117150] [ENSMUST00000145727] [ENSMUST00000150849]

AlphaFold

Q9QZ09

Predicted Effect

probably damaging
Transcript: ENSMUST00000055425
AA Change: S512G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058137
Gene: ENSMUSG00000058388
AA Change: S512G

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: S565G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066607
Gene: ENSMUSG00000058388
AA Change: S565G

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: S520G

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088184
Gene: ENSMUSG00000058388
AA Change: S520G

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: S565G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113973
Gene: ENSMUSG00000058388
AA Change: S565G

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: S565G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114722
Gene: ENSMUSG00000058388
AA Change: S565G

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: ENSMUST00000150849

SMART Domains

Protein: ENSMUSP00000118281
Gene: ENSMUSG00000058388

Domain	Start	End	E-Value	Type
Pfam:Phtf-FEM1B_bdg	3	158	4.5e-90	PFAM
low complexity region	170	181	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Coch	G	T	12: 51,640,344 (GRCm39)		probably benign	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,298,783 (GRCm39)	E264K	probably benign	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or12e8	G	A	2: 87,188,426 (GRCm39)	V213I	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Tulp1	T	C	17: 28,582,379 (GRCm39)		probably null	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vax2	A	G	6: 83,688,298 (GRCm39)	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	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
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
R8354:Phtf1	UTSW	3	103,911,765 (GRCm39)	missense	probably damaging	1.00
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'- CCTTGCGTGCATTGAGAATG -3'
(R):5'- ATCATCAACACGCATGCTTTCC -3'

Sequencing Primer
(F):5'- GTGGACTTTGACATGAACACTGC -3'
(R):5'- ACACGCATGCTTTCCATAGC -3'

Posted On

2019-06-26