Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01819:Pih1d2'

154474

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pih1d2

Ensembl Gene

ENSMUSG00000000167

Gene Name

PIH1 domain containing 2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL01819

Quality Score

Status

Chromosome

Chromosomal Location

50617321-50625000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50621877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 268 (S268R)

Ref Sequence

ENSEMBL: ENSMUSP00000000171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000151197] [ENSMUST00000155435] [ENSMUST00000171462]

AlphaFold

Q8CHR9

Predicted Effect

probably benign
Transcript: ENSMUST00000000171
AA Change: S268R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: S268R

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	314	4.1e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124029

Predicted Effect

probably benign
Transcript: ENSMUST00000125606

SMART Domains

Protein: ENSMUSP00000121100
Gene: ENSMUSG00000000167

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	140	2.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131351

SMART Domains

Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC
low complexity region	198	216	N/A	INTRINSIC
low complexity region	224	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132187

SMART Domains

Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	92	1.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141366

SMART Domains

Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167

Domain	Start	End	E-Value	Type
Pfam:PIH1	35	198	2.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145139

Predicted Effect

probably benign
Transcript: ENSMUST00000147671

SMART Domains

Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151197

SMART Domains

Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167

Domain	Start	End	E-Value	Type
Pfam:PIH1	19	235	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155435

SMART Domains

Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC
low complexity region	198	214	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155773

Predicted Effect

probably benign
Transcript: ENSMUST00000171462

SMART Domains

Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
Pfam:NKAP	86	163	5.2e-26	PFAM
low complexity region	198	216	N/A	INTRINSIC
low complexity region	224	256	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,584,561	S105P	probably benign	Het
Adora2b	A	G	11: 62,265,184	N153S	possibly damaging	Het
Afm	C	T	5: 90,524,906	T200I	probably benign	Het
Cyp2c67	T	C	19: 39,615,721	D397G	probably damaging	Het
Dnah9	A	G	11: 66,108,126	V1032A	probably benign	Het
Elovl7	T	G	13: 108,274,320	V143G	probably damaging	Het
Fhl4	T	C	10: 85,098,870	K16E	probably damaging	Het
Golga1	C	T	2: 39,034,149	C383Y	probably benign	Het
Gucy1a2	C	T	9: 3,865,409	R628*	probably null	Het
Hectd4	A	G	5: 121,328,418	D2432G	possibly damaging	Het
Iqcf5	T	A	9: 106,515,990	*149R	probably null	Het
Kcnab1	T	A	3: 65,319,454	Y185N	probably damaging	Het
Lars	G	T	18: 42,202,550	T1167K	probably benign	Het
Mib2	A	T	4: 155,655,258		probably null	Het
Mrps2	T	C	2: 28,468,336	V46A	probably benign	Het
Myo18b	T	C	5: 112,878,050	T45A	unknown	Het
Myo1e	C	T	9: 70,343,040		probably benign	Het
Olfr1129	A	G	2: 87,575,479	I132V	probably damaging	Het
Olfr1285	T	A	2: 111,408,733	V106E	probably damaging	Het
Osbp2	A	T	11: 3,717,127	I8N	probably damaging	Het
Pcdhb22	A	T	18: 37,519,921	N481Y	probably damaging	Het
Pde3a	T	C	6: 141,487,537	W765R	probably damaging	Het
Phf11c	T	C	14: 59,393,137	T40A	probably benign	Het
Pkd1l2	T	C	8: 116,998,174	N2333D	probably damaging	Het
Prex1	A	G	2: 166,621,245	I62T	probably damaging	Het
Ptcd2	T	C	13: 99,326,711	N245S	possibly damaging	Het
Ripor3	C	A	2: 167,980,843	V933F	probably damaging	Het
Sphk2	A	G	7: 45,711,056		probably null	Het
Tfcp2	T	G	15: 100,504,439	E492D	probably benign	Het
Ttn	C	T	2: 76,798,762	V14411I	possibly damaging	Het
Utp20	T	C	10: 88,792,687	Q915R	probably damaging	Het
Vmn2r45	C	A	7: 8,485,557	S158I	probably benign	Het

Other mutations in Pih1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4449:Pih1d2	UTSW	9	50621627	frame shift	probably null
R0390:Pih1d2	UTSW	9	50621046	missense	probably damaging	1.00
R0443:Pih1d2	UTSW	9	50621103	missense	possibly damaging	0.46
R1570:Pih1d2	UTSW	9	50621179	missense	probably benign	0.06
R1874:Pih1d2	UTSW	9	50620945	missense	possibly damaging	0.68
R2207:Pih1d2	UTSW	9	50621079	missense	probably benign	0.17
R4667:Pih1d2	UTSW	9	50620952	nonsense	probably null
R5806:Pih1d2	UTSW	9	50618450	unclassified	probably benign
R5811:Pih1d2	UTSW	9	50621074	missense	probably damaging	1.00
R5949:Pih1d2	UTSW	9	50624984	missense	probably damaging	1.00
R6156:Pih1d2	UTSW	9	50621152	missense	possibly damaging	0.88
R6416:Pih1d2	UTSW	9	50618609	missense	probably benign	0.00
R6711:Pih1d2	UTSW	9	50618010	start codon destroyed	probably null
R7052:Pih1d2	UTSW	9	50621777	missense	probably damaging	1.00
R7557:Pih1d2	UTSW	9	50624916	missense	probably damaging	0.99
R7661:Pih1d2	UTSW	9	50618258	critical splice donor site	probably null
R7770:Pih1d2	UTSW	9	50621801	missense	not run
R8295:Pih1d2	UTSW	9	50621079	missense	probably damaging	1.00
R8978:Pih1d2	UTSW	9	50624932	missense	probably benign	0.43
R9147:Pih1d2	UTSW	9	50621021	missense	possibly damaging	0.91
R9401:Pih1d2	UTSW	9	50618605	missense	probably damaging	1.00

Posted On

2014-02-04