Mutagenetix > Incidental Mutation

Incidental Mutation 'R7661:Pih1d2'

591570

Institutional Source

Beutler Lab

Gene Symbol

Pih1d2

Ensembl Gene

ENSMUSG00000000167

Gene Name

PIH1 domain containing 2

Synonyms

2700059L22Rik

MMRRC Submission

045736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R7661 (G1)

Quality Score

134.008

Status

Validated

Chromosome

Chromosomal Location

50528621-50536300 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 50529558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119253 (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

SMART Domains

Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167

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: 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 null
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

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	A	T	12: 107,455,215 (GRCm39)	K100N	unknown	Het
Abi3bp	T	A	16: 56,453,263 (GRCm39)		probably null	Het
Akr1c20	T	C	13: 4,558,218 (GRCm39)	D210G	probably benign	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Ascc1	A	C	10: 59,885,629 (GRCm39)	N227H	probably damaging	Het
Atp5f1a	G	T	18: 77,861,802 (GRCm39)	A18S	possibly damaging	Het
Bcl2l13	A	G	6: 120,842,558 (GRCm39)	T84A	possibly damaging	Het
Blmh	T	A	11: 76,877,341 (GRCm39)	V419D	probably damaging	Het
Cacna1d	G	A	14: 29,769,177 (GRCm39)	P1918S	probably benign	Het
Calr4	T	C	4: 109,110,951 (GRCm39)	V339A	probably benign	Het
Capza3	C	A	6: 139,987,498 (GRCm39)	D32E	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cldn20	T	A	17: 3,583,133 (GRCm39)	M102K	possibly damaging	Het
Dennd1a	T	C	2: 37,734,841 (GRCm39)	Q479R	probably benign	Het
Dpp10	A	T	1: 123,312,681 (GRCm39)	I432N	probably damaging	Het
Dst	T	A	1: 34,295,434 (GRCm39)		probably null	Het
Efcab3	T	A	11: 104,617,503 (GRCm39)	D741E	probably benign	Het
Fam135a	C	T	1: 24,111,843 (GRCm39)		probably null	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Focad	G	A	4: 88,221,772 (GRCm39)	R714H	unknown	Het
Hace1	T	G	10: 45,481,649 (GRCm39)	V124G	probably damaging	Het
Ifit1bl2	T	A	19: 34,596,428 (GRCm39)	Y396F	probably damaging	Het
Il22ra2	A	G	10: 19,497,826 (GRCm39)	I13M	probably benign	Het
Kif21a	A	G	15: 90,865,122 (GRCm39)	F517L	possibly damaging	Het
Lrrc4	T	C	6: 28,829,762 (GRCm39)	T618A	probably benign	Het
Mdn1	A	G	4: 32,691,229 (GRCm39)	T952A	probably benign	Het
Mindy3	A	T	2: 12,402,328 (GRCm39)	I208K	probably damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	A	G	14: 103,450,059 (GRCm39)	I1744T	probably damaging	Het
Nanog	A	T	6: 122,690,431 (GRCm39)	R279W	probably damaging	Het
Ncoa2	T	A	1: 13,244,761 (GRCm39)	T646S	probably damaging	Het
Ndufa5	A	G	6: 24,518,724 (GRCm39)	*117R	probably null	Het
Nudt18	A	T	14: 70,817,276 (GRCm39)	E293D	probably benign	Het
Or1e22	A	G	11: 73,377,426 (GRCm39)	S75P	probably damaging	Het
Or51aa2	A	T	7: 103,187,826 (GRCm39)	V205E	probably damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppp2r3d	A	G	9: 124,442,696 (GRCm38)	F17L		Het
Ptprk	T	C	10: 28,342,036 (GRCm39)	I481T	probably benign	Het
Pygo2	T	C	3: 89,338,038 (GRCm39)		probably null	Het
Raet1d	T	C	10: 22,248,156 (GRCm39)	S225P	possibly damaging	Het
Rnf24	T	C	2: 131,164,135 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,687 (GRCm39)	S687G	probably damaging	Het
Rsph9	A	G	17: 46,446,013 (GRCm39)	S186P	probably damaging	Het
Sash1	C	T	10: 8,605,155 (GRCm39)	M1078I	probably benign	Het
Scd4	C	A	19: 44,327,510 (GRCm39)	D195E	probably benign	Het
Spopfm3	C	T	3: 94,105,709 (GRCm39)	T9I	probably damaging	Het
Syn3	A	G	10: 85,904,940 (GRCm39)	C348R	probably damaging	Het
Uspl1	T	C	5: 149,151,827 (GRCm39)	F1009S	probably benign	Het
Vmn1r2	T	A	4: 3,172,149 (GRCm39)	F23I	probably benign	Het
Vmn1r257	A	G	7: 22,391,229 (GRCm39)	S172P	probably benign	Het
Vmn2r-ps158	T	A	7: 42,672,582 (GRCm39)	N72K	probably benign	Het
Zfp747l1	A	T	7: 126,984,135 (GRCm39)	C322*	probably null	Het
Zfp839	C	T	12: 110,835,226 (GRCm39)	T827I	probably benign	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
R7557:Pih1d2	UTSW	9	50,536,216 (GRCm39)	missense	probably damaging	0.99
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'- GCTCAAGGCAACATAGATGTCTG -3'
(R):5'- TTTGGAACCTGCAGAGAGAC -3'

Sequencing Primer
(F):5'- CGTAAGCATACTGGCTCCAG -3'
(R):5'- CCTGCAGAGAGACAGGACTTG -3'

Posted On

2019-11-12