Mutagenetix > Incidental Mutations

Incidental Mutation 'R2207:Pih1d2'

239149

Institutional Source

Beutler Lab

Gene Symbol

Pih1d2

Ensembl Gene

ENSMUSG00000000167

Gene Name

PIH1 domain containing 2

Synonyms

MMRRC Submission

040209-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2207 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50617321-50625000 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50621079 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 162 (H162N)

Ref Sequence

ENSEMBL: ENSMUSP00000122789 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000000171
AA Change: H146N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: H146N

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
AA Change: H162N

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122789
Gene: ENSMUSG00000000167
AA Change: H162N

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
AA Change: H146N

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167
AA Change: H146N

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

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	G	13: 59,743,106	V300A	probably benign	Het
2410137M14Rik	A	G	17: 36,978,073		probably benign	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abcb1b	C	T	5: 8,824,803	R488C	probably benign	Het
Adam34	T	C	8: 43,652,237	I124V	probably benign	Het
Aicda	T	A	6: 122,561,285	V134D	possibly damaging	Het
Akt2	T	A	7: 27,637,200		probably null	Het
Aldh1a3	T	C	7: 66,406,021	R341G	probably damaging	Het
Ankrd12	G	T	17: 66,031,574		probably null	Het
Anxa11	A	G	14: 25,874,297	Y244C	probably damaging	Het
Atp2c2	G	A	8: 119,748,309	R551Q	probably damaging	Het
B4galt3	C	A	1: 171,274,043	H196N	probably damaging	Het
Bcl11a	G	T	11: 24,163,343	G229W	probably damaging	Het
Brip1	A	G	11: 86,061,877	V1026A	probably benign	Het
Cacna1h	A	T	17: 25,385,013	S1282T	probably benign	Het
Calcr	T	C	6: 3,717,133	Y109C	probably damaging	Het
Ccdc39	T	C	3: 33,836,733	I241V	probably damaging	Het
Ccdc9	A	G	7: 16,284,269		probably benign	Het
Cdk17	G	A	10: 93,228,762	D298N	probably damaging	Het
Cdkl3	A	G	11: 52,027,193	*354W	probably null	Het
Celf6	A	T	9: 59,604,327	Y401F	possibly damaging	Het
Clec4a4	C	T	6: 123,013,807	L169F	probably damaging	Het
Col14a1	T	C	15: 55,463,686	F1411L	unknown	Het
Col4a2	G	T	8: 11,443,352	G1354W	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cst13	A	T	2: 148,823,282	R66W	probably damaging	Het
Dhx8	A	G	11: 101,750,971	T632A	probably benign	Het
Disp1	A	G	1: 183,088,342	F838S	possibly damaging	Het
Dlg1	A	G	16: 31,853,846	H599R	probably benign	Het
Dnah12	T	A	14: 26,781,787	V1654E	probably damaging	Het
Dnah5	C	T	15: 28,343,671	L2406F	probably benign	Het
Fam98b	C	G	2: 117,267,819	R257G	probably damaging	Het
Fbn2	A	T	18: 58,081,399	C900*	probably null	Het
Fgf1	A	G	18: 38,847,085	Y79H	possibly damaging	Het
Foxn1	C	A	11: 78,358,804	A632S	probably benign	Het
Fsip2	T	G	2: 82,977,479	S1381A	probably benign	Het
Gtf2b	G	A	3: 142,778,320	G85D	probably benign	Het
Gyg	C	A	3: 20,150,539	G161C	probably damaging	Het
Hemgn	G	T	4: 46,396,301	L312I	possibly damaging	Het
Hic2	T	C	16: 17,257,460	M51T	possibly damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hpx	C	T	7: 105,592,426	R287H	probably damaging	Het
Igf2bp3	C	T	6: 49,088,554	G468E	possibly damaging	Het
Il5ra	C	A	6: 106,712,441	E397*	probably null	Het
Itfg1	A	T	8: 85,776,198	S246R	probably benign	Het
Kdm2a	A	T	19: 4,362,870	D29E	probably damaging	Het
Lamc2	T	G	1: 153,133,706	E784D	possibly damaging	Het
Lrp2	A	T	2: 69,467,028	N3196K	possibly damaging	Het
Lyzl1	T	A	18: 4,181,962	C96*	probably null	Het
Maf1	A	G	15: 76,352,518	T17A	probably benign	Het
Map1b	T	C	13: 99,431,083	D1710G	unknown	Het
Megf8	C	T	7: 25,349,797	T1773I	probably damaging	Het
Mei1	T	C	15: 82,103,249	M414T	probably benign	Het
Myo15	A	G	11: 60,506,034	N2643S	probably benign	Het
Ndufa9	A	G	6: 126,844,809	Y64H	probably damaging	Het
Neb	A	T	2: 52,211,567	L4354*	probably null	Het
Nom1	T	A	5: 29,439,974	I480N	probably damaging	Het
Nrxn3	C	T	12: 89,348,312	T331M	probably damaging	Het
Olfr1307	A	C	2: 111,944,925	F177C	probably damaging	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr403	G	T	11: 74,196,324	V274L	possibly damaging	Het
Olfr643	A	G	7: 104,059,405	S66P	probably damaging	Het
Pcdhb15	A	T	18: 37,475,022	T436S	probably benign	Het
Pcdhb18	T	A	18: 37,491,289	N557K	probably damaging	Het
Pcdhb6	T	C	18: 37,335,580	M518T	probably benign	Het
Pgm2l1	T	A	7: 100,268,112		probably null	Het
Pitrm1	T	A	13: 6,569,291	Y721N	probably damaging	Het
Pla2r1	C	A	2: 60,458,435	V618F	probably damaging	Het
Plb1	T	C	5: 32,316,640	S599P	possibly damaging	Het
Prkg1	T	C	19: 30,578,860	D562G	probably damaging	Het
Proser1	T	G	3: 53,478,391	S565A	probably benign	Het
Prx	T	A	7: 27,516,788	V238E	probably damaging	Het
Psapl1	T	C	5: 36,205,165	I367T	probably damaging	Het
Rc3h1	T	C	1: 160,940,025	V128A	probably damaging	Het
Rrm1	T	A	7: 102,442,026	M1K	probably null	Het
Rsf1	GCG	GCGACG	7: 97,579,907		probably benign	Het
Rsl1	A	G	13: 67,182,828	T447A	probably benign	Het
Ryr2	A	G	13: 11,810,937	S552P	probably damaging	Het
Sbf1	A	G	15: 89,306,693	S225P	possibly damaging	Het
Serpina3c	T	A	12: 104,151,498	I194F	probably benign	Het
Setd3	C	T	12: 108,107,285	V578M	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061		probably null	Het
Slc6a1	T	A	6: 114,308,671	V356E	probably damaging	Het
Slfn1	A	G	11: 83,121,166	E36G	possibly damaging	Het
Sorcs1	T	C	19: 50,230,217	H609R	possibly damaging	Het
Spag16	A	G	1: 70,724,884	H621R	probably benign	Het
Tg	G	A	15: 66,681,939	G401D	probably benign	Het
Tnxb	A	C	17: 34,709,417	T2602P	possibly damaging	Het
Trip11	T	C	12: 101,873,442	N1643S	probably benign	Het
Ttn	A	T	2: 76,965,811	I590K	probably benign	Het
Ttn	G	A	2: 76,879,343	R1581*	probably null	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Wdr7	T	A	18: 63,777,607	V690E	possibly damaging	Het
Xaf1	A	T	11: 72,303,402	E36D	possibly damaging	Het
Zfp131	A	T	13: 119,775,812	F303I	probably damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp788	A	T	7: 41,649,640	I567F	probably damaging	Het
Zfyve26	A	G	12: 79,246,087	V2096A	probably damaging	Het

Other mutations in Pih1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Pih1d2	APN	9	50621877	missense	probably benign	0.09
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
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

Predicted Primers

PCR Primer
(F):5'- GATGGAATCTGTCGCTTGCAAC -3'
(R):5'- TGGGCTACAAACCCAGAATCTG -3'

Sequencing Primer
(F):5'- AACTTTGCTAATATGGGTTGGTATAC -3'
(R):5'- AGAATCTGCCATCACTTCATTTTCAG -3'

Posted On

2014-10-02