Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01527:Palmd'

89614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Palmd

Ensembl Gene

ENSMUSG00000033377

Gene Name

palmdelphin

Synonyms

4631423C22Rik, PALML

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01527

Quality Score

Status

Chromosome

Chromosomal Location

116918258-116968987 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 116927188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 166 (E166*)

Ref Sequence

ENSEMBL: ENSMUSP00000113107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040097] [ENSMUST00000119557] [ENSMUST00000143611]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040097
AA Change: E166*

SMART Domains

Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: E166*

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:Paralemmin	65	512	3.6e-57	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000119557
AA Change: E166*

SMART Domains

Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: E166*

Domain	Start	End	E-Value	Type
low complexity region	29	44	N/A	INTRINSIC
Pfam:Paralemmin	64	278	6.6e-14	PFAM
Pfam:Paralemmin	323	515	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143611

SMART Domains

Protein: ENSMUSP00000122725
Gene: ENSMUSG00000033377

Domain	Start	End	E-Value	Type
coiled coil region	4	94	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	G	T	17: 35,567,833		probably null	Het
Abca13	T	A	11: 9,290,788	W884R	possibly damaging	Het
Ahi1	T	C	10: 20,960,085		probably benign	Het
Ankfn1	G	T	11: 89,391,639	P394Q	probably benign	Het
AW549877	T	C	15: 3,988,683	Y170C	probably damaging	Het
Cacnb2	T	C	2: 14,984,270	I393T	possibly damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Col22a1	T	C	15: 71,907,031	E269G	probably damaging	Het
Cyp24a1	A	G	2: 170,496,566	L70P	probably damaging	Het
Cyp8b1	T	C	9: 121,914,995	K424E	probably damaging	Het
Dicer1	G	A	12: 104,691,610	Q1902*	probably null	Het
Dst	T	A	1: 34,247,653	L544Q	probably damaging	Het
Esrp2	T	C	8: 106,132,233	T591A	probably benign	Het
Gap43	C	T	16: 42,292,153	E82K	probably benign	Het
Kif17	G	A	4: 138,269,086	V125I	probably benign	Het
Lancl2	T	C	6: 57,732,322	S370P	probably damaging	Het
Macf1	T	C	4: 123,493,160	I203V	possibly damaging	Het
Mphosph9	A	G	5: 124,283,624		probably benign	Het
Ncapg	A	G	5: 45,672,384	I143V	possibly damaging	Het
Nr3c1	A	G	18: 39,486,637	V199A	probably benign	Het
Obscn	T	A	11: 59,064,417	N3890I	possibly damaging	Het
Olfr130	A	G	17: 38,068,095	N308S	probably benign	Het
Olfr669	T	A	7: 104,938,991	V155E	possibly damaging	Het
Olfr92	A	T	17: 37,111,809	Y58N	probably damaging	Het
Olfr951	A	G	9: 39,393,818	H6R	probably benign	Het
Pdzd2	T	C	15: 12,445,664	E327G	probably damaging	Het
Pex13	T	C	11: 23,656,111	T40A	probably benign	Het
Pkd2	T	C	5: 104,498,884		probably benign	Het
Plb1	A	G	5: 32,317,123	T643A	probably damaging	Het
Prlr	T	A	15: 10,329,171	D577E	probably benign	Het
Slc44a3	A	G	3: 121,527,128	C75R	probably damaging	Het
Susd6	A	T	12: 80,874,319	N230I	possibly damaging	Het
Tbx10	A	G	19: 3,998,227	R251G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,516	I408V	probably benign	Het
Uap1l1	A	G	2: 25,363,804		probably null	Het
Ugt2b5	A	G	5: 87,136,209	V308A	possibly damaging	Het
Usp28	C	A	9: 49,025,873	H147Q	probably benign	Het
Vmn1r203	T	C	13: 22,524,277	I76T	possibly damaging	Het
Vmn2r104	A	G	17: 20,042,896	I101T	possibly damaging	Het
Vmn2r17	T	A	5: 109,453,140	L768H	probably damaging	Het

Other mutations in Palmd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Palmd	APN	3	116927391	splice site	probably benign
IGL01112:Palmd	APN	3	116924273	missense	probably damaging	1.00
IGL01484:Palmd	APN	3	116953145	splice site	probably benign
IGL01561:Palmd	APN	3	116924093	missense	probably damaging	0.99
IGL01975:Palmd	APN	3	116923634	missense	probably benign	0.24
R0107:Palmd	UTSW	3	116924076	missense	probably damaging	1.00
R1099:Palmd	UTSW	3	116923225	missense	possibly damaging	0.71
R1552:Palmd	UTSW	3	116948040	splice site	probably benign
R1613:Palmd	UTSW	3	116923504	missense	probably damaging	1.00
R1710:Palmd	UTSW	3	116923657	missense	probably damaging	1.00
R2090:Palmd	UTSW	3	116927434	missense	probably damaging	1.00
R2869:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2869:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2870:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2870:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2871:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2871:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2872:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2872:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R2873:Palmd	UTSW	3	116923751	missense	possibly damaging	0.60
R3774:Palmd	UTSW	3	116927663	missense	probably damaging	1.00
R3981:Palmd	UTSW	3	116923823	missense	probably benign	0.01
R3982:Palmd	UTSW	3	116923823	missense	probably benign	0.01
R3983:Palmd	UTSW	3	116923823	missense	probably benign	0.01
R4955:Palmd	UTSW	3	116924224	missense	probably damaging	1.00
R5103:Palmd	UTSW	3	116927421	missense	probably damaging	1.00
R5261:Palmd	UTSW	3	116923360	missense	probably benign	0.04
R5265:Palmd	UTSW	3	116923849	missense	possibly damaging	0.67
R5292:Palmd	UTSW	3	116923744	missense	probably benign	0.00
R5499:Palmd	UTSW	3	116923832	missense	probably benign	0.01
R5597:Palmd	UTSW	3	116923576	missense	probably damaging	1.00
R5666:Palmd	UTSW	3	116924101	missense	possibly damaging	0.55
R5817:Palmd	UTSW	3	116918623	missense	probably benign	0.01
R6843:Palmd	UTSW	3	116924215	missense	probably damaging	1.00
R6854:Palmd	UTSW	3	116923463	missense	probably benign	0.06
R7052:Palmd	UTSW	3	116923363	missense	probably benign	0.30
R7450:Palmd	UTSW	3	116927643	missense	probably damaging	1.00
R8876:Palmd	UTSW	3	116927250	missense	probably damaging	1.00
R9655:Palmd	UTSW	3	116923191	makesense	probably null
R9681:Palmd	UTSW	3	116923471	missense	probably benign	0.22
Z1177:Palmd	UTSW	3	116923502	missense	probably damaging	1.00

Posted On

2013-12-03