Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:Phf7'

487592

Institutional Source

Beutler Lab

Gene Symbol

Phf7

Ensembl Gene

ENSMUSG00000021902

Gene Name

PHD finger protein 7

Synonyms

1700010P14Rik, 1700006H01Rik

MMRRC Submission

044276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30959646-30973274 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30962820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 137 (Y137H)

Ref Sequence

ENSEMBL: ENSMUSP00000154281 (fasta)

Gene Model

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

AlphaFold

Q9DAG9

Predicted Effect

probably damaging
Transcript: ENSMUST00000022459
AA Change: Y137H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022459
Gene: ENSMUSG00000021902
AA Change: Y137H

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

silent
Transcript: ENSMUST00000226310

Predicted Effect

probably damaging
Transcript: ENSMUST00000226565
AA Change: Y137H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228140

Predicted Effect

probably benign
Transcript: ENSMUST00000228437

Predicted Effect

probably damaging
Transcript: ENSMUST00000228930
AA Change: Y137H

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	A	11: 69,789,137 (GRCm39)	Y354F	probably damaging	Het
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Acsm2	G	A	7: 119,190,470 (GRCm39)		probably null	Het
Adgrl1	A	G	8: 84,645,616 (GRCm39)	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,505,274 (GRCm39)	Y159*	probably null	Het
Bcl2l2	G	A	14: 55,122,202 (GRCm39)	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,914,970 (GRCm39)	H293R	probably benign	Het
Ccn1	T	C	3: 145,354,986 (GRCm39)	I90V	possibly damaging	Het
Clec4b1	A	G	6: 123,045,461 (GRCm39)	T94A	possibly damaging	Het
Crim1	A	G	17: 78,588,738 (GRCm39)	D271G	probably benign	Het
Csmd2	G	A	4: 128,387,127 (GRCm39)	G2141S	possibly damaging	Het
Cspg4b	T	A	13: 113,505,340 (GRCm39)	Y2156*	probably null	Het
Ctnnal1	C	A	4: 56,829,573 (GRCm39)	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,774,851 (GRCm39)	R264H	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsc2	T	A	18: 20,178,487 (GRCm39)	T306S	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	T	19: 29,600,609 (GRCm39)	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5114	C	T	7: 39,058,024 (GRCm39)	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,780,418 (GRCm39)	L168P	probably damaging	Het
Hao2	T	C	3: 98,787,842 (GRCm39)	T196A	probably benign	Het
Hdac9	A	C	12: 34,337,474 (GRCm39)	L669R	probably damaging	Het
Hps5	A	G	7: 46,421,198 (GRCm39)	V755A	probably benign	Het
Jag2	G	T	12: 112,883,969 (GRCm39)	Y203*	probably null	Het
Lrrn3	G	A	12: 41,503,787 (GRCm39)	Q177*	probably null	Het
Me1	A	T	9: 86,533,009 (GRCm39)	V151E	probably damaging	Het
Mkx	A	G	18: 6,992,888 (GRCm39)	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,522,836 (GRCm39)	S643P	probably benign	Het
Mysm1	C	A	4: 94,856,192 (GRCm39)	R135L	probably damaging	Het
Nup210l	T	C	3: 90,011,483 (GRCm39)	F4L	probably benign	Het
Pappa2	A	T	1: 158,542,567 (GRCm39)	C1773*	probably null	Het
Pcbp3	T	C	10: 76,599,182 (GRCm39)	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,410,912 (GRCm39)	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,261,379 (GRCm39)	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,178,467 (GRCm39)	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,818,543 (GRCm39)	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,955,135 (GRCm39)	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,819,990 (GRCm39)	W251*	probably null	Het
Prps1l1	A	G	12: 35,035,329 (GRCm39)	E148G	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Robo3	A	G	9: 37,334,589 (GRCm39)	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	A	T	11: 50,308,075 (GRCm39)	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271 (GRCm39)	F1112S	probably damaging	Het
Sap130	T	C	18: 31,815,144 (GRCm39)	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,059,513 (GRCm39)	C1124F	probably damaging	Het
Stk10	T	A	11: 32,565,871 (GRCm39)	C872S	probably damaging	Het
Tex15	A	T	8: 34,064,158 (GRCm39)	N1196I	possibly damaging	Het
Tnxa	A	G	17: 35,019,262 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,635,815 (GRCm39)	T171S	probably benign	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
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
R7428: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'- AGCAAGGAGAAACCCCTGTG -3'
(R):5'- TGTTGCTTCCCAGAATTTCCAG -3'

Sequencing Primer
(F):5'- GGAGAAACCCCTGTGAAACTTC -3'
(R):5'- CCCAGAATTTCCAGTCTGTAGAAAG -3'

Posted On

2017-10-10