Mutagenetix > Incidental Mutation

Incidental Mutation 'R9220:Plekhd1'

699421

Institutional Source

Beutler Lab

Gene Symbol

Plekhd1

Ensembl Gene

ENSMUSG00000066438

Gene Name

pleckstrin homology domain containing, family D (with coiled-coil domains) member 1

Synonyms

3830431G21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9220 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80739375-80770990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80768726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 403 (F403Y)

Ref Sequence

ENSEMBL: ENSMUSP00000119711 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140770]

AlphaFold

B2RPU2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140770
AA Change: F403Y

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119711
Gene: ENSMUSG00000066438
AA Change: F403Y

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
PH	29	138	9.19e-13	SMART
coiled coil region	146	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142760

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Afg3l2	T	G	18: 67,562,266 (GRCm39)	I270L	probably benign	Het
Akap6	A	T	12: 53,187,232 (GRCm39)	I1549F	possibly damaging	Het
Ank2	T	C	3: 126,737,086 (GRCm39)	T2933A	unknown	Het
Atp1a3	C	A	7: 24,696,625 (GRCm39)	E309*	probably null	Het
B4galt2	T	C	4: 117,734,399 (GRCm39)	Y250C	probably damaging	Het
Bcl2l13	C	A	6: 120,847,735 (GRCm39)	T129K	possibly damaging	Het
Bltp3b	A	T	10: 89,626,457 (GRCm39)	T384S	probably benign	Het
Clp1	A	T	2: 84,554,076 (GRCm39)	H364Q	probably damaging	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dicer1	A	G	12: 104,679,415 (GRCm39)	C521R	probably damaging	Het
Dnah10	A	T	5: 124,871,437 (GRCm39)	I2486F	probably benign	Het
Eml1	C	A	12: 108,480,702 (GRCm39)	C389*	probably null	Het
Fabp6	C	T	11: 43,489,572 (GRCm39)	G23D	probably benign	Het
Fam3b	A	T	16: 97,302,111 (GRCm39)	S38T	probably benign	Het
Fsd1l	A	T	4: 53,679,799 (GRCm39)	K166*	probably null	Het
Galc	A	G	12: 98,220,523 (GRCm39)	S115P	probably damaging	Het
Gpn1	G	A	5: 31,664,884 (GRCm39)	A303T	probably benign	Het
Grid2	A	T	6: 63,885,888 (GRCm39)	S95C	probably damaging	Het
Helz	T	A	11: 107,560,873 (GRCm39)	S1312T	probably benign	Het
Matn2	T	C	15: 34,410,325 (GRCm39)	F506L	possibly damaging	Het
Mcemp1	A	G	8: 3,717,512 (GRCm39)	S148G	probably benign	Het
Minar1	T	A	9: 89,484,398 (GRCm39)	D333V	probably damaging	Het
Ndrg1	A	G	15: 66,805,711 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,523 (GRCm39)	N377Y	probably damaging	Het
Nox4	C	T	7: 86,970,774 (GRCm39)	T217I	probably benign	Het
Or7g21	T	C	9: 19,033,193 (GRCm39)	F311S	possibly damaging	Het
Or8b52	A	T	9: 38,576,803 (GRCm39)	Y112*	probably null	Het
Phf8-ps	T	C	17: 33,286,494 (GRCm39)	I103V	probably benign	Het
Plekhg1	T	C	10: 3,913,805 (GRCm39)	S1231P		Het
Plekhg3	T	A	12: 76,618,839 (GRCm39)	M497K	probably benign	Het
Rpap1	T	C	2: 119,604,669 (GRCm39)	H413R	probably damaging	Het
Rragd	A	G	4: 32,995,924 (GRCm39)	T90A	probably damaging	Het
Septin9	T	C	11: 117,242,396 (GRCm39)	M286T	probably benign	Het
Shpk	GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA	GA	11: 73,113,996 (GRCm39)		probably null	Het
Slc22a2	T	A	17: 12,838,757 (GRCm39)	D528E	probably benign	Het
Slirp	G	A	12: 87,494,376 (GRCm39)	R47K	probably benign	Het
Sncg	T	C	14: 34,096,474 (GRCm39)	T22A	possibly damaging	Het
Tnfrsf21	A	G	17: 43,398,801 (GRCm39)	S636G	probably damaging	Het
Unc80	T	G	1: 66,546,534 (GRCm39)	S535R	probably damaging	Het
Vmn1r149	A	T	7: 22,137,378 (GRCm39)	S93T	probably benign	Het
Vps13d	A	G	4: 144,783,058 (GRCm39)	Y3957H		Het
Wdr35	T	A	12: 9,036,000 (GRCm39)	V257E	possibly damaging	Het
Wscd1	A	G	11: 71,662,750 (GRCm39)	T264A	probably benign	Het
Zfp266	G	A	9: 20,413,337 (GRCm39)	Q108*	probably null	Het
Zfp62	T	A	11: 49,106,075 (GRCm39)	S55R	probably benign	Het

Other mutations in Plekhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02882:Plekhd1	APN	12	80,765,781 (GRCm39)	critical splice donor site	probably null
R0377:Plekhd1	UTSW	12	80,753,210 (GRCm39)	splice site	probably benign
R0462:Plekhd1	UTSW	12	80,768,352 (GRCm39)	missense	probably damaging	1.00
R0626:Plekhd1	UTSW	12	80,764,075 (GRCm39)	missense	probably damaging	1.00
R1125:Plekhd1	UTSW	12	80,753,998 (GRCm39)	missense	possibly damaging	0.83
R1344:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R1418:Plekhd1	UTSW	12	80,739,659 (GRCm39)	missense	probably benign
R1694:Plekhd1	UTSW	12	80,769,095 (GRCm39)	missense	possibly damaging	0.90
R2070:Plekhd1	UTSW	12	80,739,681 (GRCm39)	nonsense	probably null
R2073:Plekhd1	UTSW	12	80,768,066 (GRCm39)	missense	probably benign	0.19
R2231:Plekhd1	UTSW	12	80,768,725 (GRCm39)	missense	possibly damaging	0.74
R2326:Plekhd1	UTSW	12	80,768,873 (GRCm39)	splice site	probably null
R3615:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R3616:Plekhd1	UTSW	12	80,764,044 (GRCm39)	missense	probably damaging	1.00
R4899:Plekhd1	UTSW	12	80,769,101 (GRCm39)	missense	probably damaging	1.00
R4955:Plekhd1	UTSW	12	80,768,795 (GRCm39)	missense	possibly damaging	0.54
R5028:Plekhd1	UTSW	12	80,739,723 (GRCm39)	missense	probably damaging	1.00
R5446:Plekhd1	UTSW	12	80,767,410 (GRCm39)	missense	probably benign	0.00
R5615:Plekhd1	UTSW	12	80,767,364 (GRCm39)	missense	probably damaging	1.00
R5648:Plekhd1	UTSW	12	80,767,362 (GRCm39)	missense	probably damaging	1.00
R5766:Plekhd1	UTSW	12	80,769,140 (GRCm39)	missense	probably benign
R6534:Plekhd1	UTSW	12	80,754,031 (GRCm39)	missense	probably damaging	0.99
R7003:Plekhd1	UTSW	12	80,768,734 (GRCm39)	missense	possibly damaging	0.92
R7615:Plekhd1	UTSW	12	80,769,219 (GRCm39)	missense	probably benign	0.02
R7656:Plekhd1	UTSW	12	80,768,934 (GRCm39)	splice site	probably null
R8348:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8448:Plekhd1	UTSW	12	80,753,149 (GRCm39)	missense	probably damaging	0.97
R8750:Plekhd1	UTSW	12	80,752,861 (GRCm39)	missense	probably damaging	1.00
R8883:Plekhd1	UTSW	12	80,767,368 (GRCm39)	missense	probably benign	0.13
R9235:Plekhd1	UTSW	12	80,768,791 (GRCm39)	missense	possibly damaging	0.69
R9553:Plekhd1	UTSW	12	80,753,977 (GRCm39)	missense	probably benign	0.09
R9604:Plekhd1	UTSW	12	80,739,731 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCCTGGAGTTTTGTCCTC -3'
(R):5'- AGCCACGTTCAAGGACATAC -3'

Sequencing Primer
(F):5'- CTCTTCCTTTTAAAAAGCTCAGAGC -3'
(R):5'- GACATACTGTCCAGCCTTGTC -3'

Posted On

2022-02-07