Mutagenetix > Incidental Mutation

Incidental Mutation 'R7676:Palm3'

592456

Institutional Source

Beutler Lab

Gene Symbol

Palm3

Ensembl Gene

ENSMUSG00000047986

Gene Name

paralemmin 3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7676 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84021471-84030295 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84029445 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 529 (S529P)

Ref Sequence

ENSEMBL: ENSMUSP00000051396 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005601] [ENSMUST00000055077]

AlphaFold

A2TJV2

Predicted Effect

probably benign
Transcript: ENSMUST00000005601

SMART Domains

Protein: ENSMUSP00000005601
Gene: ENSMUSG00000005465

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:FN3	31	101	2e-6	BLAST
FN3	123	210	3.85e-3	SMART
FN3	314	396	3.78e0	SMART
Blast:FN3	411	492	4e-36	BLAST
low complexity region	516	532	N/A	INTRINSIC
low complexity region	584	596	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055077
AA Change: S529P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051396
Gene: ENSMUSG00000047986
AA Change: S529P

Domain	Start	End	E-Value	Type
coiled coil region	19	64	N/A	INTRINSIC
low complexity region	69	81	N/A	INTRINSIC
coiled coil region	90	116	N/A	INTRINSIC
low complexity region	167	178	N/A	INTRINSIC
low complexity region	248	261	N/A	INTRINSIC
low complexity region	277	293	N/A	INTRINSIC
low complexity region	337	349	N/A	INTRINSIC
low complexity region	399	416	N/A	INTRINSIC
low complexity region	635	647	N/A	INTRINSIC
low complexity region	707	720	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142367

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210245

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam6a	G	A	12: 113,544,576	G190S	probably benign	Het
Adnp	G	A	2: 168,183,447	R643*	probably null	Het
Akap6	A	G	12: 52,886,850	D375G	possibly damaging	Het
Aldh1l2	G	T	10: 83,508,111	A480E	probably benign	Het
Ccdc175	T	A	12: 72,102,047	Q779L	possibly damaging	Het
D430042O09Rik	A	G	7: 125,850,377	D897G	probably benign	Het
Dnah7b	T	G	1: 46,234,164	L2484*	probably null	Het
Dnajc21	T	C	15: 10,462,344	Y65C	possibly damaging	Het
Dnhd1	C	A	7: 105,684,087	N255K	probably benign	Het
Efhc1	G	T	1: 20,967,369	G257W	probably damaging	Het
Fars2	C	A	13: 36,205,043	L172I	probably benign	Het
Fat4	T	C	3: 38,891,697	Y1580H	probably damaging	Het
Fli1	T	A	9: 32,428,030	N253Y	probably benign	Het
Foxd3	G	T	4: 99,656,914	C97F	probably damaging	Het
Gem	C	A	4: 11,711,170	D120E	possibly damaging	Het
Ighv10-3	A	G	12: 114,523,679	C41R	probably damaging	Het
Kcnab3	A	G	11: 69,326,727	S16G	probably benign	Het
Keg1	T	G	19: 12,716,045	V154G	probably benign	Het
Lrrc45	G	A	11: 120,720,322	R602H	probably damaging	Het
Ltbp1	A	G	17: 75,291,297	D591G	possibly damaging	Het
Mmp10	T	A	9: 7,503,549	V140D	probably damaging	Het
Nat8f2	A	T	6: 85,868,212	M56K	probably benign	Het
Nckipsd	T	C	9: 108,814,954	F525L	probably damaging	Het
Olfr1328	A	G	4: 118,934,150	S233P	probably damaging	Het
Olfr1406	T	A	1: 173,183,553	K294*	probably null	Het
Olfr804	G	T	10: 129,705,286	S136I	possibly damaging	Het
P2ry12	T	A	3: 59,217,757	M166L	possibly damaging	Het
Pdilt	A	T	7: 119,494,997	Y344N	probably damaging	Het
Pip4k2b	A	T	11: 97,720,362	N309K	probably benign	Het
Pkd1l1	C	T	11: 8,962,708	V166I		Het
Plxdc2	C	T	2: 16,712,083	S377L	probably benign	Het
Rc3h2	A	T	2: 37,405,332	V224E	possibly damaging	Het
Stk32c	T	A	7: 139,105,304	D428V	possibly damaging	Het
Ttn	T	C	2: 76,814,607	D12968G	probably damaging	Het
Tulp2	G	T	7: 45,521,027	V457F	possibly damaging	Het
Vcan	A	T	13: 89,691,789	S1879T	probably damaging	Het
Vmn1r51	T	C	6: 90,129,455	Y118H	probably benign	Het
Zfat	A	C	15: 68,224,844	V40G	possibly damaging	Het

Other mutations in Palm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Palm3	APN	8	84029445	missense	possibly damaging	0.90
IGL02634:Palm3	APN	8	84028865	missense	probably damaging	0.99
IGL02710:Palm3	APN	8	84028312	missense	possibly damaging	0.75
R0277:Palm3	UTSW	8	84028720	missense	probably damaging	1.00
R0323:Palm3	UTSW	8	84028720	missense	probably damaging	1.00
R0422:Palm3	UTSW	8	84028863	missense	possibly damaging	0.94
R0507:Palm3	UTSW	8	84028329	missense	probably benign	0.00
R0835:Palm3	UTSW	8	84028147	missense	probably benign
R1037:Palm3	UTSW	8	84029272	missense	probably benign
R1618:Palm3	UTSW	8	84029662	missense	possibly damaging	0.92
R1621:Palm3	UTSW	8	84030022	missense	possibly damaging	0.93
R1797:Palm3	UTSW	8	84028803	missense	probably benign	0.00
R1989:Palm3	UTSW	8	84030022	missense	possibly damaging	0.93
R3618:Palm3	UTSW	8	84029344	missense	probably benign	0.00
R3619:Palm3	UTSW	8	84029344	missense	probably benign	0.00
R4495:Palm3	UTSW	8	84026866	missense	probably damaging	1.00
R4588:Palm3	UTSW	8	84029386	missense	probably benign	0.20
R4687:Palm3	UTSW	8	84029935	missense	probably benign	0.00
R4948:Palm3	UTSW	8	84027079	nonsense	probably null
R5265:Palm3	UTSW	8	84021530	critical splice donor site	probably null
R5951:Palm3	UTSW	8	84029420	missense	probably benign	0.02
R6580:Palm3	UTSW	8	84029548	missense	probably damaging	1.00
R7237:Palm3	UTSW	8	84029488	missense	probably benign	0.00
R7562:Palm3	UTSW	8	84021507	missense	possibly damaging	0.87
R7923:Palm3	UTSW	8	84029461	missense	probably benign
R8118:Palm3	UTSW	8	84029809	missense	probably damaging	1.00
R8680:Palm3	UTSW	8	84029875	missense	probably damaging	1.00
R9500:Palm3	UTSW	8	84027007	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCCAGCAGAGATAGCAACAG -3'
(R):5'- TGTCCACCTCAGAGAATGGC -3'

Sequencing Primer
(F):5'- TTCCAGCAGAGATAGCAACAGATGAG -3'
(R):5'- GCTCGATGCCATCTGCC -3'

Posted On

2019-11-12