Mutagenetix > Incidental Mutation

Incidental Mutation 'R7359:Phf23'

571209

Institutional Source

Beutler Lab

Gene Symbol

Phf23

Ensembl Gene

ENSMUSG00000018572

Gene Name

PHD finger protein 23

Synonyms

2410141M05Rik

MMRRC Submission

045445-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69886603-69890835 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69889467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 167 (V167E)

Ref Sequence

ENSEMBL: ENSMUSP00000018716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000018716] [ENSMUST00000019362] [ENSMUST00000101526] [ENSMUST00000102575] [ENSMUST00000108592] [ENSMUST00000133485] [ENSMUST00000135814] [ENSMUST00000138186] [ENSMUST00000153684] [ENSMUST00000190940]

AlphaFold

Q8BSN5

Predicted Effect

probably benign
Transcript: ENSMUST00000018711

SMART Domains

Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	116	1.8e-51	PFAM
Pfam:APG12	30	116	6.2e-11	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018716
AA Change: V167E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000018716
Gene: ENSMUSG00000018572
AA Change: V167E

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	147	161	N/A	INTRINSIC
low complexity region	188	196	N/A	INTRINSIC
low complexity region	210	224	N/A	INTRINSIC
low complexity region	225	241	N/A	INTRINSIC
low complexity region	247	261	N/A	INTRINSIC
low complexity region	263	286	N/A	INTRINSIC
PHD	339	383	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000019362

SMART Domains

Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
Pfam:Dishevelled	103	263	1.5e-60	PFAM
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.1e-75	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000101526
AA Change: V100E

SMART Domains

Protein: ENSMUSP00000099064
Gene: ENSMUSG00000018572
AA Change: V100E

Domain	Start	End	E-Value	Type
low complexity region	13	26	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	121	129	N/A	INTRINSIC
low complexity region	143	157	N/A	INTRINSIC
low complexity region	158	174	N/A	INTRINSIC
low complexity region	180	194	N/A	INTRINSIC
low complexity region	196	219	N/A	INTRINSIC
PHD	272	316	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102575

SMART Domains

Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108592

SMART Domains

Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	93	5.4e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133485
AA Change: V37E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117373
Gene: ENSMUSG00000018572
AA Change: V37E

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135814
AA Change: V37E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120665
Gene: ENSMUSG00000018572
AA Change: V37E

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000138186
AA Change: V157E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117635
Gene: ENSMUSG00000018572
AA Change: V157E

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	137	151	N/A	INTRINSIC
low complexity region	178	186	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153684
AA Change: V37E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121780
Gene: ENSMUSG00000018572
AA Change: V37E

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	58	66	N/A	INTRINSIC
low complexity region	80	94	N/A	INTRINSIC
low complexity region	95	111	N/A	INTRINSIC
low complexity region	117	131	N/A	INTRINSIC
low complexity region	133	156	N/A	INTRINSIC
PHD	209	253	1.2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190940

SMART Domains

Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888

Domain	Start	End	E-Value	Type
DAX	11	93	2.31e-56	SMART
low complexity region	112	122	N/A	INTRINSIC
Pfam:Dishevelled	160	232	8.1e-27	PFAM
low complexity region	250	262	N/A	INTRINSIC
PDZ	276	355	1.65e-15	SMART
low complexity region	395	407	N/A	INTRINSIC
DEP	433	507	6.6e-29	SMART
Pfam:Dsh_C	515	726	1.3e-79	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (87/88)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,348 (GRCm39)	V1233A	possibly damaging	Het
Abcc9	G	A	6: 142,617,408 (GRCm39)	T552I	probably damaging	Het
Adgrf4	T	C	17: 42,978,003 (GRCm39)	I447V	possibly damaging	Het
Akirin2	T	A	4: 34,565,944 (GRCm39)	D178E	probably damaging	Het
Arhgap12	T	C	18: 6,065,709 (GRCm39)	E359G	possibly damaging	Het
Arhgef5	A	C	6: 43,257,216 (GRCm39)	T1256P	probably damaging	Het
Avpr1a	A	C	10: 122,285,283 (GRCm39)	I192L	possibly damaging	Het
B4galnt4	A	G	7: 140,651,197 (GRCm39)	H926R	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Ccdc68	C	T	18: 70,089,123 (GRCm39)	A222V	probably benign	Het
Cdc23	T	C	18: 34,774,394 (GRCm39)	Y295C	probably benign	Het
Ceacam10	T	C	7: 24,480,432 (GRCm39)	Y188H	unknown	Het
Cfap57	T	A	4: 118,456,162 (GRCm39)	T511S	probably benign	Het
Cftr	T	C	6: 18,221,623 (GRCm39)	V245A	probably benign	Het
Cit	A	G	5: 116,064,633 (GRCm39)	D505G	probably damaging	Het
Cmah	T	G	13: 24,652,539 (GRCm39)	N556K	probably benign	Het
Cspg4b	T	C	13: 113,478,964 (GRCm39)	S1503P		Het
D430041D05Rik	C	A	2: 104,044,482 (GRCm39)	D839Y	probably damaging	Het
Dek	T	C	13: 47,259,065 (GRCm39)	D47G	unknown	Het
Des	C	T	1: 75,337,596 (GRCm39)	R179C	probably damaging	Het
Desi2	A	G	1: 178,015,509 (GRCm39)	N10D	probably benign	Het
Dlg5	T	C	14: 24,214,615 (GRCm39)	N679S	probably damaging	Het
Dnajc24	T	C	2: 105,832,293 (GRCm39)	Y30C	probably damaging	Het
Dock10	T	A	1: 80,687,065 (GRCm39)	H34L	probably benign	Het
Dock5	A	G	14: 68,003,337 (GRCm39)	V1586A	probably benign	Het
Dpy19l4	A	G	4: 11,273,125 (GRCm39)	V576A	probably benign	Het
Dusp6	A	G	10: 99,099,927 (GRCm39)	E125G	probably benign	Het
Dync1h1	T	C	12: 110,591,036 (GRCm39)	Y1035H	probably benign	Het
Dysf	G	A	6: 84,172,306 (GRCm39)		probably null	Het
En1	A	G	1: 120,534,817 (GRCm39)	K369E	unknown	Het
F2r	A	G	13: 95,741,194 (GRCm39)	Y114H	probably damaging	Het
Fam184a	T	C	10: 53,575,318 (GRCm39)	Y97C	probably damaging	Het
Fggy	T	C	4: 95,657,717 (GRCm39)	V286A	probably benign	Het
Flot2	T	C	11: 77,949,383 (GRCm39)	I322T	probably benign	Het
Fndc1	A	T	17: 8,032,318 (GRCm39)		probably null	Het
Frs3	A	G	17: 48,010,450 (GRCm39)	D28G	probably damaging	Het
Gimap3	C	T	6: 48,742,280 (GRCm39)	D217N	probably benign	Het
Gm128	A	G	3: 95,147,934 (GRCm39)	V120A	probably benign	Het
Gm17190	T	C	13: 96,218,970 (GRCm39)	V102A	probably damaging	Het
Gm17268	A	G	11: 81,919,057 (GRCm39)	V20A	unknown	Het
Grsf1	A	T	5: 88,813,423 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,278,395 (GRCm39)	Y1699F	probably benign	Het
Hnmt	T	A	2: 23,938,731 (GRCm39)	M36L	probably benign	Het
Hoxd1	C	A	2: 74,594,447 (GRCm39)	T234K	probably damaging	Het
Hydin	C	G	8: 111,232,733 (GRCm39)	S1679R	probably damaging	Het
Jag1	T	C	2: 136,926,226 (GRCm39)	R1059G	probably benign	Het
Kbtbd11	T	C	8: 15,078,858 (GRCm39)	W486R	probably damaging	Het
Kcnh6	A	G	11: 105,909,789 (GRCm39)	D438G	possibly damaging	Het
Lgals4	T	G	7: 28,540,724 (GRCm39)	F276V	probably benign	Het
Lrp6	G	T	6: 134,427,923 (GRCm39)	Y1556*	probably null	Het
Mpdz	G	A	4: 81,274,632 (GRCm39)	L855F	probably benign	Het
Muc16	A	T	9: 18,554,316 (GRCm39)	D3992E	unknown	Het
Npc1	T	C	18: 12,328,237 (GRCm39)	N1024S	probably benign	Het
Nsfl1c	A	G	2: 151,336,279 (GRCm39)	T18A	probably benign	Het
Or12e8	T	A	2: 87,188,555 (GRCm39)	L256I	possibly damaging	Het
Or12k5	A	T	2: 36,895,449 (GRCm39)	M59K	probably damaging	Het
Or2g7	G	A	17: 38,378,506 (GRCm39)	W148*	probably null	Het
Or8g31-ps1	T	C	9: 39,276,775 (GRCm39)	*307R	probably null	Het
Pcdh15	A	T	10: 74,420,048 (GRCm39)	K1235N	probably damaging	Het
Pcif1	A	G	2: 164,726,251 (GRCm39)	K51E	probably damaging	Het
Pde1b	G	A	15: 103,429,752 (GRCm39)	D82N	probably damaging	Het
Pik3c2g	T	C	6: 139,913,620 (GRCm39)	V1006A	unknown	Het
Pira12	T	A	7: 3,901,103 (GRCm39)		probably benign	Het
Pkhd1l1	G	T	15: 44,452,882 (GRCm39)	V3936F	probably damaging	Het
Pnpla1	T	C	17: 29,100,159 (GRCm39)	V342A	probably benign	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppl	A	G	16: 4,907,205 (GRCm39)	L1030P	possibly damaging	Het
Prelid1	A	T	13: 55,469,088 (GRCm39)		probably benign	Het
Racgap1	C	T	15: 99,529,081 (GRCm39)	S264N	probably benign	Het
Rdh13	T	C	7: 4,430,696 (GRCm39)	D289G	probably benign	Het
Rtp3	T	C	9: 110,815,364 (GRCm39)	I334V	probably benign	Het
Setd2	A	T	9: 110,392,012 (GRCm39)	D200V		Het
Simc1	A	G	13: 54,651,731 (GRCm39)	S15G	unknown	Het
Sirpb1c	A	T	3: 15,887,389 (GRCm39)	M150K	probably benign	Het
Smoc1	T	A	12: 81,197,475 (GRCm39)	D202E	probably damaging	Het
Spata31d1b	A	G	13: 59,860,304 (GRCm39)	Y59C	probably damaging	Het
Stard9	A	G	2: 120,528,761 (GRCm39)	T1673A	probably damaging	Het
Tbc1d31	T	A	15: 57,779,504 (GRCm39)	H72Q	probably benign	Het
Tgfbrap1	C	A	1: 43,114,693 (GRCm39)	V136L	probably damaging	Het
Top2b	A	G	14: 16,407,376 (GRCm38)	N720S	probably null	Het
Vmn1r11	T	C	6: 57,115,184 (GRCm39)	S283P	probably damaging	Het
Vmn1r19	A	G	6: 57,382,080 (GRCm39)	H211R	probably damaging	Het
Vmn2r44	A	T	7: 8,370,538 (GRCm39)	M836K	probably benign	Het
Vmn2r61	A	C	7: 41,915,407 (GRCm39)	H118P	probably benign	Het
Vps33a	A	G	5: 123,696,696 (GRCm39)	I319T	probably benign	Het
Vwf	T	A	6: 125,543,220 (GRCm39)	S151T		Het
Zfp423	T	C	8: 88,508,871 (GRCm39)	N491S	possibly damaging	Het
Zfp626	T	C	7: 27,507,660 (GRCm39)	F23S	probably damaging	Het

Other mutations in Phf23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Greatness	UTSW	11	69,890,091 (GRCm39)	missense	possibly damaging	0.86
R7261:Phf23	UTSW	11	69,890,091 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTCAATCAGGTCCTACCCAGC -3'
(R):5'- TCTGTATCACTGGGAGGAGC -3'

Sequencing Primer
(F):5'- AGGTCCTACCCAGCCAGGAC -3'
(R):5'- CCAGGAGGTGGGAGTCTATCTC -3'

Posted On

2019-09-13