Mutagenetix > Incidental Mutation

Incidental Mutation 'R7428:Phf7'

576274

Institutional Source

Beutler Lab

Gene Symbol

Phf7

Ensembl Gene

ENSMUSG00000021902

Gene Name

PHD finger protein 7

Synonyms

1700010P14Rik, 1700006H01Rik

MMRRC Submission

045506-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7428 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30959646-30973274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30962370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 145 (R145Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022459] [ENSMUST00000226310] [ENSMUST00000226565] [ENSMUST00000228437] [ENSMUST00000228930]

AlphaFold

Q9DAG9

PDB Structure

Solution structure of PHD domain in PHD finger protein 7 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022459
AA Change: R145Q

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902
AA Change: R145Q

Domain	Start	End	E-Value	Type
PHD	97	145	8.45e-3	SMART
RING	160	207	7.46e-1	SMART
RING	250	300	4.87e0	SMART
PHD	252	301	1.16e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226310
AA Change: D154N

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226565
AA Change: R145Q

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000228437

Predicted Effect

probably benign
Transcript: ENSMUST00000228930

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,543 (GRCm39)	Y63F	probably benign	Het
Atl2	T	C	17: 80,183,227 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Cep295	A	G	9: 15,244,794 (GRCm39)	S1221P	possibly damaging	Het
Cep350	T	C	1: 155,770,365 (GRCm39)	S1842G	probably benign	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Creb5	C	A	6: 53,658,143 (GRCm39)	Q158K	unknown	Het
Crtam	G	C	9: 40,892,478 (GRCm39)	A266G	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Ddit4l	A	G	3: 137,331,931 (GRCm39)	E99G	probably damaging	Het
Dmbt1	A	T	7: 130,710,192 (GRCm39)	T1495S	possibly damaging	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Leng8	C	T	7: 4,146,572 (GRCm39)	R395W	probably damaging	Het
Mocs2	A	G	13: 114,957,400 (GRCm39)	I6V	probably benign	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Myh13	A	G	11: 67,223,390 (GRCm39)	T237A	probably damaging	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup205	T	A	6: 35,204,494 (GRCm39)	I1460N	probably damaging	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Otof	G	T	5: 30,547,169 (GRCm39)	D383E	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pclo	A	T	5: 14,800,531 (GRCm39)	I1179F		Het
Pde6c	T	C	19: 38,145,984 (GRCm39)		probably null	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Prkg1	T	C	19: 30,556,235 (GRCm39)	I585M	probably damaging	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Ptprd	G	A	4: 76,004,705 (GRCm39)	P17S	probably benign	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Sap30	C	T	8: 57,940,546 (GRCm39)	V19M	possibly damaging	Het
Scrib	G	A	15: 75,933,047 (GRCm39)	T721M	probably damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco4c1	T	C	1: 96,765,245 (GRCm39)	T402A	possibly damaging	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Taar8c	A	C	10: 23,977,446 (GRCm39)	L122R	probably damaging	Het
Tbc1d2	G	A	4: 46,649,965 (GRCm39)	P24S	probably benign	Het
Tex36	T	C	7: 133,196,866 (GRCm39)		probably null	Het
Tmem145	T	C	7: 25,006,590 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Vars2	A	T	17: 35,977,578 (GRCm39)	V118E	probably benign	Het
Vmn1r195	T	C	13: 22,463,022 (GRCm39)	V164A	probably benign	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Wnt9b	T	C	11: 103,621,643 (GRCm39)	Q338R	probably benign	Het
Zfp128	A	G	7: 12,624,289 (GRCm39)	D219G	probably benign	Het
Zfp541	A	T	7: 15,826,793 (GRCm39)	R1181W	probably damaging	Het
Zfp867	C	T	11: 59,354,760 (GRCm39)	G190S	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably damaging	Het

Other mutations in Phf7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0021:Phf7	UTSW	14	30,960,443 (GRCm39)	splice site	probably benign
R0021:Phf7	UTSW	14	30,960,443 (GRCm39)	splice site	probably benign
R1331:Phf7	UTSW	14	30,962,362 (GRCm39)	nonsense	probably null
R1912:Phf7	UTSW	14	30,962,281 (GRCm39)	missense	possibly damaging	0.64
R5185:Phf7	UTSW	14	30,969,994 (GRCm39)	splice site	probably null
R6129:Phf7	UTSW	14	30,962,820 (GRCm39)	missense	probably damaging	1.00
R7035:Phf7	UTSW	14	30,961,183 (GRCm39)	missense	probably damaging	1.00
R7358:Phf7	UTSW	14	30,963,745 (GRCm39)	missense	probably benign	0.01
R7427:Phf7	UTSW	14	30,962,370 (GRCm39)	missense	possibly damaging	0.83
R7538:Phf7	UTSW	14	30,960,386 (GRCm39)	missense	probably benign
R7666:Phf7	UTSW	14	30,962,311 (GRCm39)	missense	probably damaging	0.98
R8891:Phf7	UTSW	14	30,971,613 (GRCm39)	start gained	probably benign
R8946:Phf7	UTSW	14	30,970,106 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAATCACGGAAGGTTGTCC -3'
(R):5'- TGCTCATAACTGAATAGGGCATTC -3'

Sequencing Primer
(F):5'- GGCTCTGGATGTTCTCAA -3'
(R):5'- GAGACTGTCCTCCATAGCTCAGTG -3'

Posted On

2019-10-07