Mutagenetix > Incidental Mutation

Incidental Mutation 'R7557:Pih1d2'

584840

Institutional Source

Beutler Lab

Gene Symbol

Pih1d2

Ensembl Gene

ENSMUSG00000000167

Gene Name

PIH1 domain containing 2

Synonyms

2700059L22Rik

MMRRC Submission

045652-MU

Accession Numbers

Essential gene?

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

Stock #

R7557 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

50528621-50536300 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50536216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 290 (E290D)

Ref Sequence

ENSEMBL: ENSMUSP00000000171 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000125606] [ENSMUST00000132187] [ENSMUST00000141366] [ENSMUST00000151197]

AlphaFold

Q8CHR9

Predicted Effect

probably damaging
Transcript: ENSMUST00000000171
AA Change: E290D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167
AA Change: E290D

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

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: 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: ENSMUST00000151197

SMART Domains

Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,044 (GRCm39)	Q1078*	probably null	Het
Aatk	T	C	11: 119,900,256 (GRCm39)	K1310R	possibly damaging	Het
Acaa2	C	T	18: 74,928,230 (GRCm39)	T153M	possibly damaging	Het
Add3	A	G	19: 53,227,868 (GRCm39)	T518A	probably damaging	Het
Cacnb4	T	C	2: 52,359,579 (GRCm39)	E143G	probably damaging	Het
Cd209a	T	A	8: 3,795,541 (GRCm39)	T177S	probably benign	Het
Chp1	T	A	2: 119,391,238 (GRCm39)	Y32N	probably damaging	Het
Clcn3	T	C	8: 61,390,402 (GRCm39)	T180A	probably damaging	Het
Dctn2	C	A	10: 127,114,273 (GRCm39)	T373N	probably benign	Het
Dipk2a	T	C	9: 94,402,591 (GRCm39)	D357G	probably damaging	Het
Ecpas	A	G	4: 58,849,691 (GRCm39)	Y483H	possibly damaging	Het
Emb	T	A	13: 117,386,252 (GRCm39)	N136K	probably benign	Het
Enpp2	A	T	15: 54,773,536 (GRCm39)	C62S	probably damaging	Het
Fbxo28	G	T	1: 182,169,000 (GRCm39)	A52E	unknown	Het
Gask1b	A	T	3: 79,793,915 (GRCm39)	K128*	probably null	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Ggta1	T	C	2: 35,292,548 (GRCm39)	D253G	probably damaging	Het
Gps1	C	T	11: 120,677,193 (GRCm39)	A164V	probably benign	Het
Gramd4	C	T	15: 85,985,101 (GRCm39)	Q146*	probably null	Het
Kcnh5	A	T	12: 75,054,399 (GRCm39)	M515K	possibly damaging	Het
Klrc3	T	C	6: 129,616,107 (GRCm39)	T203A	probably damaging	Het
Krt26	G	T	11: 99,225,567 (GRCm39)	R305S	probably damaging	Het
Lpin1	A	G	12: 16,630,793 (GRCm39)	V35A		Het
Marf1	C	T	16: 13,950,560 (GRCm39)	R942H	probably damaging	Het
Mfhas1	T	A	8: 36,056,758 (GRCm39)	M411K	possibly damaging	Het
Mok	A	G	12: 110,774,833 (GRCm39)	S330P	probably benign	Het
Msto1	A	G	3: 88,817,435 (GRCm39)		probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or10w1	T	A	19: 13,632,390 (GRCm39)	I199N	possibly damaging	Het
Pcdhgb4	T	A	18: 37,855,847 (GRCm39)	C747*	probably null	Het
Pih1d1	A	G	7: 44,806,183 (GRCm39)	T40A	probably benign	Het
Plce1	A	G	19: 38,753,848 (GRCm39)	K1849E	probably benign	Het
Plekha5	T	C	6: 140,372,271 (GRCm39)	Y74H	probably damaging	Het
Pole	T	G	5: 110,460,860 (GRCm39)	I1183S	probably damaging	Het
Ptgs1	T	C	2: 36,135,223 (GRCm39)	S396P	possibly damaging	Het
Rasa2	T	C	9: 96,439,478 (GRCm39)	E575G	probably damaging	Het
Sec22b	A	G	3: 97,808,674 (GRCm39)	T5A	probably damaging	Het
Slc18a1	T	A	8: 69,518,213 (GRCm39)	D267V	probably damaging	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Tcea1	T	A	1: 4,965,213 (GRCm39)	C294*	probably null	Het
Tut7	T	C	13: 59,936,280 (GRCm39)	I1274V	possibly damaging	Het
Txndc15	T	A	13: 55,865,767 (GRCm39)	M77K	probably benign	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 63,997,475 (GRCm39)	V377D	probably damaging	Het
Vmn2r7	A	G	3: 64,632,394 (GRCm39)	Y23H	probably benign	Het
Vwa3a	T	A	7: 120,394,841 (GRCm39)	M887K	possibly damaging	Het
Zbtb5	T	C	4: 44,995,196 (GRCm39)	N63D	probably damaging	Het

Other mutations in Pih1d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Pih1d2	APN	9	50,533,177 (GRCm39)	missense	probably benign	0.09
FR4449:Pih1d2	UTSW	9	50,532,927 (GRCm39)	frame shift	probably null
R0390:Pih1d2	UTSW	9	50,532,346 (GRCm39)	missense	probably damaging	1.00
R0443:Pih1d2	UTSW	9	50,532,403 (GRCm39)	missense	possibly damaging	0.46
R1570:Pih1d2	UTSW	9	50,532,479 (GRCm39)	missense	probably benign	0.06
R1874:Pih1d2	UTSW	9	50,532,245 (GRCm39)	missense	possibly damaging	0.68
R2207:Pih1d2	UTSW	9	50,532,379 (GRCm39)	missense	probably benign	0.17
R4667:Pih1d2	UTSW	9	50,532,252 (GRCm39)	nonsense	probably null
R5806:Pih1d2	UTSW	9	50,529,750 (GRCm39)	unclassified	probably benign
R5811:Pih1d2	UTSW	9	50,532,374 (GRCm39)	missense	probably damaging	1.00
R5949:Pih1d2	UTSW	9	50,536,284 (GRCm39)	missense	probably damaging	1.00
R6156:Pih1d2	UTSW	9	50,532,452 (GRCm39)	missense	possibly damaging	0.88
R6416:Pih1d2	UTSW	9	50,529,909 (GRCm39)	missense	probably benign	0.00
R6711:Pih1d2	UTSW	9	50,529,310 (GRCm39)	start codon destroyed	probably null
R7052:Pih1d2	UTSW	9	50,533,077 (GRCm39)	missense	probably damaging	1.00
R7661:Pih1d2	UTSW	9	50,529,558 (GRCm39)	critical splice donor site	probably null
R7770:Pih1d2	UTSW	9	50,533,101 (GRCm39)	missense	not run
R8295:Pih1d2	UTSW	9	50,532,379 (GRCm39)	missense	probably damaging	1.00
R8978:Pih1d2	UTSW	9	50,536,232 (GRCm39)	missense	probably benign	0.43
R9147:Pih1d2	UTSW	9	50,532,321 (GRCm39)	missense	possibly damaging	0.91
R9401:Pih1d2	UTSW	9	50,529,905 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAATTCCCAGTCCTGTGGC -3'
(R):5'- TGTAGGTCCTGTAACTCATAAGAGC -3'

Sequencing Primer
(F):5'- TGGCAGGAACTAGGTTTCCAC -3'
(R):5'- TTATAGTGAGTCAGGCACACC -3'

Posted On

2019-10-17