Mutagenetix > Incidental Mutation

Incidental Mutation 'R9529:Gdpd4'

719391

Institutional Source

Beutler Lab

Gene Symbol

Gdpd4

Ensembl Gene

ENSMUSG00000035582

Gene Name

glycerophosphodiester phosphodiesterase domain containing 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R9529 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

97569162-97698870 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97610793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 71 (V71A)

Ref Sequence

ENSEMBL: ENSMUSP00000036772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041860] [ENSMUST00000170049]

AlphaFold

Q3TT99

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041860
AA Change: V71A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036772
Gene: ENSMUSG00000035582
AA Change: V71A

Domain	Start	End	E-Value	Type
transmembrane domain	65	84	N/A	INTRINSIC
transmembrane domain	104	135	N/A	INTRINSIC
transmembrane domain	148	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	241	263	N/A	INTRINSIC
Pfam:GDPD	281	440	1.4e-19	PFAM
transmembrane domain	543	565	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170049
AA Change: V71A

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131960
Gene: ENSMUSG00000035582
AA Change: V71A

Domain	Start	End	E-Value	Type
transmembrane domain	65	84	N/A	INTRINSIC
transmembrane domain	104	135	N/A	INTRINSIC
transmembrane domain	148	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	241	263	N/A	INTRINSIC
Pfam:GDPD	281	439	3.4e-21	PFAM
transmembrane domain	543	565	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	C	5: 113,331,682 (GRCm39)	L844R	possibly damaging	Het
Aadacl4fm2	A	G	4: 144,282,082 (GRCm39)	Y237H	probably benign	Het
Abca8a	A	T	11: 109,947,167 (GRCm39)	Y1036*	probably null	Het
Abcg3	T	C	5: 105,121,973 (GRCm39)	T135A	probably damaging	Het
Arhgef28	G	A	13: 98,213,773 (GRCm39)	A30V	probably damaging	Het
Cald1	T	A	6: 34,662,947 (GRCm39)	D3E	probably damaging	Het
Ccdc89	T	A	7: 90,076,573 (GRCm39)	L261Q	probably damaging	Het
Ceacam1	T	C	7: 25,171,231 (GRCm39)	D411G	possibly damaging	Het
Chil4	T	A	3: 106,118,656 (GRCm39)	N87Y	probably damaging	Het
Ciita	T	A	16: 10,328,640 (GRCm39)	L308Q	probably benign	Het
Clptm1	T	C	7: 19,371,600 (GRCm39)	I278V	probably benign	Het
Col5a3	A	T	9: 20,685,308 (GRCm39)		probably null	Het
Ddost	T	A	4: 138,038,780 (GRCm39)	D336E	probably benign	Het
Dnah7a	T	C	1: 53,561,495 (GRCm39)	Y2054C	probably damaging	Het
Erc2	T	A	14: 28,197,723 (GRCm39)	L1000H	unknown	Het
Fhip2b	T	C	14: 70,822,579 (GRCm39)	E714G	probably damaging	Het
Hmcn1	A	G	1: 150,545,175 (GRCm39)	Y2811H	probably damaging	Het
Hmox2	C	T	16: 4,582,818 (GRCm39)	Q184*	probably null	Het
Igkv9-124	G	T	6: 67,919,280 (GRCm39)	T44N	probably benign	Het
Kmt2d	G	A	15: 98,737,649 (GRCm39)	T5149I	unknown	Het
Lamb2	T	A	9: 108,363,477 (GRCm39)	D885E	probably benign	Het
Macf1	A	G	4: 123,407,680 (GRCm39)	S220P	probably damaging	Het
Muc2	A	T	7: 141,287,453 (GRCm39)	T211S	possibly damaging	Het
Mup13	A	T	4: 61,184,117 (GRCm39)	C15S	possibly damaging	Het
Myh3	T	C	11: 66,979,556 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,850,833 (GRCm38)	I293V	probably benign	Het
Or10d3	G	A	9: 39,461,723 (GRCm39)	T148I	probably benign	Het
Or2a52	T	A	6: 43,144,432 (GRCm39)	S147T	possibly damaging	Het
Or6c68	A	G	10: 129,158,205 (GRCm39)	T238A	probably damaging	Het
Pdss2	G	A	10: 43,269,990 (GRCm39)	V278I	probably benign	Het
Prex1	T	C	2: 166,431,518 (GRCm39)	K748R	probably damaging	Het
Ptprb	A	G	10: 116,174,519 (GRCm39)		probably null	Het
Ranbp17	G	A	11: 33,424,826 (GRCm39)	S510L	unknown	Het
Rp1	T	A	1: 4,416,447 (GRCm39)	H1555L	probably benign	Het
Rsph6a	A	G	7: 18,799,535 (GRCm39)	K389E	probably benign	Het
Ryk	T	C	9: 102,746,518 (GRCm39)	V151A	probably benign	Het
Ryr3	T	A	2: 112,465,660 (GRCm39)	N4838I	possibly damaging	Het
Sbno1	G	A	5: 124,517,413 (GRCm39)	R1233*	probably null	Het
Scn2a	A	T	2: 65,594,932 (GRCm39)	K1927M	probably damaging	Het
Sec22c	A	T	9: 121,513,860 (GRCm39)	I259N	probably damaging	Het
Slc6a15	A	T	10: 103,240,583 (GRCm39)	D402V	probably benign	Het
Stk38	G	A	17: 29,207,210 (GRCm39)	T111I	probably damaging	Het
Tmem237	G	A	1: 59,147,215 (GRCm39)	T306I	probably damaging	Het
Tmprss11a	T	C	5: 86,576,501 (GRCm39)	K117E	probably benign	Het
Tmprss9	A	T	10: 80,730,640 (GRCm39)	D722V	probably damaging	Het
Trpc1	T	C	9: 95,592,250 (GRCm39)	Y575C	probably damaging	Het
Ube2d2b	A	G	5: 107,978,438 (GRCm39)	M30V	probably benign	Het
Usp36	A	T	11: 118,159,461 (GRCm39)	L661*	probably null	Het
Vmn2r13	G	T	5: 109,304,064 (GRCm39)	T789N	probably damaging	Het
Vmn2r5	T	C	3: 64,400,018 (GRCm39)	T550A	probably benign	Het
Xirp2	T	C	2: 67,355,540 (GRCm39)	S3434P	possibly damaging	Het
Zfp106	A	G	2: 120,351,007 (GRCm39)	V1571A	probably damaging	Het
Zfp438	A	G	18: 5,213,501 (GRCm39)	S486P	possibly damaging	Het
Zfp616	A	G	11: 73,975,660 (GRCm39)	H643R	probably damaging	Het
Zfp616	A	G	11: 73,976,596 (GRCm39)	K955R	possibly damaging	Het

Other mutations in Gdpd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Gdpd4	APN	7	97,653,478 (GRCm39)	missense	probably damaging	1.00
IGL01292:Gdpd4	APN	7	97,664,161 (GRCm39)	splice site	probably benign
IGL01317:Gdpd4	APN	7	97,647,465 (GRCm39)	missense	possibly damaging	0.74
IGL02678:Gdpd4	APN	7	97,623,584 (GRCm39)	splice site	probably benign
IGL02822:Gdpd4	APN	7	97,621,131 (GRCm39)	missense	possibly damaging	0.82
IGL02987:Gdpd4	APN	7	97,610,758 (GRCm39)	splice site	probably benign
R0022:Gdpd4	UTSW	7	97,632,082 (GRCm39)	missense	probably damaging	1.00
R0331:Gdpd4	UTSW	7	97,622,215 (GRCm39)	missense	probably benign	0.11
R0882:Gdpd4	UTSW	7	97,615,505 (GRCm39)	missense	probably damaging	1.00
R1425:Gdpd4	UTSW	7	97,623,219 (GRCm39)	missense	probably benign	0.03
R1469:Gdpd4	UTSW	7	97,623,673 (GRCm39)	splice site	probably null
R1469:Gdpd4	UTSW	7	97,623,673 (GRCm39)	splice site	probably null
R1870:Gdpd4	UTSW	7	97,622,162 (GRCm39)	missense	probably benign	0.00
R4747:Gdpd4	UTSW	7	97,610,840 (GRCm39)	missense	possibly damaging	0.80
R5017:Gdpd4	UTSW	7	97,653,482 (GRCm39)	nonsense	probably null
R5208:Gdpd4	UTSW	7	97,664,118 (GRCm39)	missense	probably benign	0.11
R5290:Gdpd4	UTSW	7	97,615,543 (GRCm39)	missense	possibly damaging	0.94
R5398:Gdpd4	UTSW	7	97,621,185 (GRCm39)	missense	probably benign	0.00
R5605:Gdpd4	UTSW	7	97,655,507 (GRCm39)	missense	probably benign	0.41
R5715:Gdpd4	UTSW	7	97,610,804 (GRCm39)	missense	probably benign	0.00
R5990:Gdpd4	UTSW	7	97,690,137 (GRCm39)	missense	probably benign	0.00
R6269:Gdpd4	UTSW	7	97,623,669 (GRCm39)	missense	probably damaging	1.00
R6314:Gdpd4	UTSW	7	97,623,160 (GRCm39)	missense	probably damaging	0.98
R6817:Gdpd4	UTSW	7	97,607,037 (GRCm39)	missense	probably benign	0.00
R6884:Gdpd4	UTSW	7	97,621,382 (GRCm39)	missense	probably damaging	1.00
R7054:Gdpd4	UTSW	7	97,623,136 (GRCm39)	missense	probably damaging	0.99
R7575:Gdpd4	UTSW	7	97,647,448 (GRCm39)	missense	probably benign	0.00
R7582:Gdpd4	UTSW	7	97,607,012 (GRCm39)	critical splice acceptor site	probably null
R7694:Gdpd4	UTSW	7	97,621,146 (GRCm39)	missense	probably benign	0.24
R7867:Gdpd4	UTSW	7	97,623,185 (GRCm39)	nonsense	probably null
R8145:Gdpd4	UTSW	7	97,690,077 (GRCm39)	missense	probably benign	0.00
R8169:Gdpd4	UTSW	7	97,621,335 (GRCm39)	missense	probably benign	0.03
R8692:Gdpd4	UTSW	7	97,690,140 (GRCm39)	missense	probably benign	0.00
R9211:Gdpd4	UTSW	7	97,615,466 (GRCm39)	missense	possibly damaging	0.74
R9286:Gdpd4	UTSW	7	97,647,639 (GRCm39)	missense	probably damaging	1.00
R9417:Gdpd4	UTSW	7	97,607,074 (GRCm39)	missense	probably benign	0.00
R9563:Gdpd4	UTSW	7	97,649,369 (GRCm39)	missense	probably damaging	1.00
Z1088:Gdpd4	UTSW	7	97,615,516 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTTCAGCTCATCAGGGCAC -3'
(R):5'- TTGCTACTAAACCACCGGATC -3'

Sequencing Primer
(F):5'- GCACCTTTTCTGTGTGTGC -3'
(R):5'- ACCGGATCTTTTCTACCTGGGAAAG -3'

Posted On

2022-07-18