Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Palmd'

401632

Institutional Source

Beutler Lab

Gene Symbol

Palmd

Ensembl Gene

ENSMUSG00000033377

Gene Name

palmdelphin

Synonyms

4631423C22Rik, PALML

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116918258-116968987 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116923849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 333 (V333D)

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 benign
Transcript: ENSMUST00000040097
AA Change: V333D

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044693
Gene: ENSMUSG00000033377
AA Change: V333D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119557
AA Change: V333D

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113107
Gene: ENSMUSG00000033377
AA Change: V333D

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dag1	A	G	9: 108,207,699	Y748H	possibly damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly 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
IGL01527:Palmd	APN	3	116927188	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCACATCAGAAGGCAGGG -3'
(R):5'- AAGAGTCATAAGCCCTGGACC -3'

Sequencing Primer
(F):5'- GGGAATGAACGATGTTATATCTGAC -3'
(R):5'- GTCATAAGCCCTGGACCAAATTTTC -3'

Posted On

2016-07-06