Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02593:Ptchd4'

299795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptchd4

Ensembl Gene

ENSMUSG00000042256

Gene Name

patched domain containing 4

Synonyms

3110082D06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02593

Quality Score

Status

Chromosome

Chromosomal Location

42626838-42815968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42628037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 166 (D166G)

Ref Sequence

ENSEMBL: ENSMUSP00000047640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048691]

AlphaFold

B9EKX1

Predicted Effect

probably benign
Transcript: ENSMUST00000048691
AA Change: D166G

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047640
Gene: ENSMUSG00000042256
AA Change: D166G

Domain	Start	End	E-Value	Type
Pfam:Patched	58	867	6.1e-102	PFAM
Pfam:Sterol-sensing	312	464	2.9e-26	PFAM
low complexity region	869	891	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	G	T	16: 22,711,078 (GRCm39)		probably null	Het
Bbs4	C	T	9: 59,235,880 (GRCm39)	D232N	probably damaging	Het
Cdh23	A	T	10: 60,301,774 (GRCm39)		probably benign	Het
Cntn5	T	C	9: 9,833,504 (GRCm39)	N554S	probably damaging	Het
Fn1	T	C	1: 71,641,591 (GRCm39)	I1652V	probably benign	Het
Golga4	T	C	9: 118,384,634 (GRCm39)		probably benign	Het
Idh3a	T	A	9: 54,503,477 (GRCm39)		probably benign	Het
Jph2	T	C	2: 163,239,166 (GRCm39)	Y94C	probably damaging	Het
Lnx2	A	G	5: 146,969,825 (GRCm39)	S238P	possibly damaging	Het
Loxhd1	A	G	18: 77,498,235 (GRCm39)	I56V	possibly damaging	Het
Myo9b	A	C	8: 71,743,417 (GRCm39)	E159D	probably damaging	Het
Nkiras1	A	G	14: 18,278,475 (GRCm38)	N63S	possibly damaging	Het
Nnmt	A	G	9: 48,516,103 (GRCm39)		probably null	Het
Or13a22	G	A	7: 140,073,244 (GRCm39)	R231H	probably benign	Het
P2ry10	T	C	X: 106,146,302 (GRCm39)	I79T	possibly damaging	Het
Padi2	A	G	4: 140,677,153 (GRCm39)	H647R	probably damaging	Het
Pate10	T	A	9: 35,653,438 (GRCm39)	C81S	possibly damaging	Het
Scml2	T	C	X: 159,970,305 (GRCm39)	V125A	probably benign	Het
Senp2	A	G	16: 21,863,021 (GRCm39)	D556G	probably damaging	Het
Serpina3a	G	T	12: 104,084,691 (GRCm39)	V29L	probably benign	Het
Sgcz	A	T	8: 37,990,432 (GRCm39)	I307N	probably damaging	Het
Slc25a13	C	T	6: 6,042,265 (GRCm39)	V638I	probably benign	Het
Snx7	G	A	3: 117,633,609 (GRCm39)	L84F	probably damaging	Het
Ticrr	A	G	7: 79,345,214 (GRCm39)	D1693G	probably damaging	Het
Tm9sf5	G	A	X: 56,467,320 (GRCm39)	D245N	probably benign	Het
Vmn2r7	C	T	3: 64,600,443 (GRCm39)	C485Y	probably damaging	Het
Vmn2r-ps129	C	T	17: 23,211,770 (GRCm39)		noncoding transcript	Het
Zfyve9	A	G	4: 108,539,420 (GRCm39)	V951A	possibly damaging	Het

Other mutations in Ptchd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ptchd4	APN	17	42,627,817 (GRCm39)	nonsense	probably null
IGL01360:Ptchd4	APN	17	42,627,936 (GRCm39)	missense	probably benign	0.09
IGL01814:Ptchd4	APN	17	42,814,177 (GRCm39)	missense	possibly damaging	0.84
IGL01885:Ptchd4	APN	17	42,814,493 (GRCm39)	missense	probably damaging	1.00
IGL01929:Ptchd4	APN	17	42,814,213 (GRCm39)	missense	probably benign	0.02
IGL02371:Ptchd4	APN	17	42,627,865 (GRCm39)	missense	possibly damaging	0.83
IGL02480:Ptchd4	APN	17	42,813,431 (GRCm39)	missense	probably benign	0.38
IGL02507:Ptchd4	APN	17	42,627,764 (GRCm39)	missense	possibly damaging	0.72
IGL02861:Ptchd4	APN	17	42,688,208 (GRCm39)	missense	probably damaging	1.00
IGL02884:Ptchd4	APN	17	42,813,340 (GRCm39)	missense	possibly damaging	0.86
IGL03384:Ptchd4	APN	17	42,813,481 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Ptchd4	UTSW	17	42,813,980 (GRCm39)	missense	probably damaging	1.00
R0030:Ptchd4	UTSW	17	42,627,999 (GRCm39)	nonsense	probably null
R0243:Ptchd4	UTSW	17	42,814,307 (GRCm39)	missense	probably damaging	1.00
R0398:Ptchd4	UTSW	17	42,688,150 (GRCm39)	missense	possibly damaging	0.95
R0513:Ptchd4	UTSW	17	42,814,637 (GRCm39)	missense	probably benign	0.14
R0630:Ptchd4	UTSW	17	42,688,076 (GRCm39)	missense	probably benign	0.17
R0662:Ptchd4	UTSW	17	42,813,467 (GRCm39)	missense	probably damaging	1.00
R1004:Ptchd4	UTSW	17	42,688,493 (GRCm39)	missense	probably benign	0.00
R1433:Ptchd4	UTSW	17	42,814,606 (GRCm39)	missense	possibly damaging	0.75
R1451:Ptchd4	UTSW	17	42,813,809 (GRCm39)	missense	probably damaging	0.99
R1522:Ptchd4	UTSW	17	42,814,433 (GRCm39)	missense	probably damaging	1.00
R1901:Ptchd4	UTSW	17	42,814,507 (GRCm39)	missense	probably benign	0.10
R1902:Ptchd4	UTSW	17	42,814,507 (GRCm39)	missense	probably benign	0.10
R2135:Ptchd4	UTSW	17	42,627,965 (GRCm39)	missense	probably benign	0.01
R3935:Ptchd4	UTSW	17	42,814,380 (GRCm39)	missense	possibly damaging	0.80
R4184:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R4552:Ptchd4	UTSW	17	42,813,346 (GRCm39)	missense	probably benign	0.00
R4573:Ptchd4	UTSW	17	42,813,668 (GRCm39)	missense	probably benign	0.26
R5100:Ptchd4	UTSW	17	42,814,567 (GRCm39)	missense	possibly damaging	0.59
R5640:Ptchd4	UTSW	17	42,814,026 (GRCm39)	missense	possibly damaging	0.73
R6213:Ptchd4	UTSW	17	42,688,251 (GRCm39)	missense	probably benign	0.00
R6704:Ptchd4	UTSW	17	42,627,931 (GRCm39)	missense	probably benign	0.00
R7011:Ptchd4	UTSW	17	42,814,759 (GRCm39)	missense	probably benign	0.19
R7017:Ptchd4	UTSW	17	42,813,626 (GRCm39)	missense	probably damaging	1.00
R7185:Ptchd4	UTSW	17	42,814,079 (GRCm39)	missense	probably damaging	1.00
R8112:Ptchd4	UTSW	17	42,814,066 (GRCm39)	missense	probably benign	0.25
R8153:Ptchd4	UTSW	17	42,814,787 (GRCm39)	missense	probably benign	0.31
R8220:Ptchd4	UTSW	17	42,813,554 (GRCm39)	missense	probably benign	0.00
R8547:Ptchd4	UTSW	17	42,813,512 (GRCm39)	missense	probably benign	0.01
R9072:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R9073:Ptchd4	UTSW	17	42,813,650 (GRCm39)	missense	probably damaging	0.99
R9205:Ptchd4	UTSW	17	42,814,276 (GRCm39)	missense	probably benign	0.00
R9242:Ptchd4	UTSW	17	42,627,604 (GRCm39)	nonsense	probably null
R9687:Ptchd4	UTSW	17	42,813,467 (GRCm39)	missense	probably damaging	1.00
R9706:Ptchd4	UTSW	17	42,814,806 (GRCm39)	makesense	probably null
R9718:Ptchd4	UTSW	17	42,813,641 (GRCm39)	missense	probably damaging	0.99
X0062:Ptchd4	UTSW	17	42,688,355 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16