Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01307:Palm3'

73505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Palm3

Ensembl Gene

ENSMUSG00000047986

Gene Name

paralemmin 3

Synonyms

4432412L15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01307

Quality Score

Status

Chromosome

Chromosomal Location

84748100-84756924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84756074 bp (GRCm39)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,159 (GRCm39)	M2302K	possibly damaging	Het
Actl9	A	G	17: 33,653,152 (GRCm39)	E404G	probably damaging	Het
Adamts12	A	T	15: 11,237,632 (GRCm39)	I314L	possibly damaging	Het
Card6	C	A	15: 5,129,484 (GRCm39)	M637I	possibly damaging	Het
Ccdc122	G	A	14: 77,329,516 (GRCm39)		probably benign	Het
Cdh10	A	G	15: 18,899,886 (GRCm39)	D71G	probably benign	Het
Cdk15	A	T	1: 59,326,955 (GRCm39)	Y214F	probably benign	Het
Cdon	A	G	9: 35,368,860 (GRCm39)	K365E	probably benign	Het
Cyp2c37	T	C	19: 39,981,023 (GRCm39)	V47A	probably benign	Het
Ddc	T	A	11: 11,789,462 (GRCm39)	D271V	probably damaging	Het
Dnah6	G	A	6: 73,042,708 (GRCm39)	A3290V	probably damaging	Het
Dtl	A	T	1: 191,302,811 (GRCm39)	S20T	possibly damaging	Het
Egf	A	C	3: 129,533,642 (GRCm39)	I66S	probably damaging	Het
Eif4a3	T	C	11: 119,184,387 (GRCm39)	K268E	probably damaging	Het
Fbxl16	A	T	17: 26,038,338 (GRCm39)		probably benign	Het
Fez2	C	T	17: 78,689,029 (GRCm39)		probably benign	Het
Fras1	C	A	5: 96,929,551 (GRCm39)	T3985K	probably benign	Het
Gbp4	T	C	5: 105,284,887 (GRCm39)	M1V	probably null	Het
Gpnmb	A	G	6: 49,022,299 (GRCm39)	D143G	probably benign	Het
Grm5	A	T	7: 87,724,220 (GRCm39)	T837S	probably damaging	Het
Hmcn1	T	C	1: 150,620,752 (GRCm39)	T1153A	possibly damaging	Het
Hp	C	T	8: 110,302,415 (GRCm39)	V178I	probably benign	Het
Macf1	A	T	4: 123,276,922 (GRCm39)	V4061E	probably damaging	Het
Msto1	C	A	3: 88,820,993 (GRCm39)	R34L	probably benign	Het
Mtf2	C	T	5: 108,254,756 (GRCm39)	T519M	probably damaging	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Ncapd2	A	G	6: 125,145,582 (GRCm39)	V1355A	possibly damaging	Het
Nhlrc2	C	A	19: 56,540,231 (GRCm39)	Y73*	probably null	Het
Nwd2	A	T	5: 63,965,626 (GRCm39)	S1737C	possibly damaging	Het
Or1p1	T	A	11: 74,180,254 (GRCm39)	C261S	possibly damaging	Het
Osmr	A	G	15: 6,873,908 (GRCm39)	V163A	probably damaging	Het
Pcnt	A	G	10: 76,247,422 (GRCm39)	Y1037H	probably damaging	Het
Pkhd1l1	T	C	15: 44,393,425 (GRCm39)	I1920T	possibly damaging	Het
Plekha7	A	G	7: 115,744,479 (GRCm39)		probably benign	Het
Psd	C	T	19: 46,303,097 (GRCm39)	G762R	probably damaging	Het
Psmb8	A	G	17: 34,418,210 (GRCm39)	T51A	probably benign	Het
Rbm12	A	C	2: 155,937,302 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,804,085 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,800 (GRCm39)	G158S	probably damaging	Het
Spata31f1a	G	T	4: 42,850,963 (GRCm39)	L398I	probably benign	Het
Stag1	A	G	9: 100,833,841 (GRCm39)		probably benign	Het
Tln2	A	G	9: 67,302,749 (GRCm39)	M74T	probably benign	Het
Trim24	C	A	6: 37,942,570 (GRCm39)	D957E	possibly damaging	Het
Trpa1	A	T	1: 14,966,771 (GRCm39)	M531K	probably benign	Het
Ttn	A	G	2: 76,736,637 (GRCm39)	Y4376H	possibly damaging	Het
Twsg1	T	C	17: 66,255,646 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,367,676 (GRCm39)	V1671E	probably damaging	Het
Vwa5b2	A	G	16: 20,423,020 (GRCm39)	D1006G	probably benign	Het

Other mutations in Palm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02634:Palm3	APN	8	84,755,494 (GRCm39)	missense	probably damaging	0.99
IGL02710:Palm3	APN	8	84,754,941 (GRCm39)	missense	possibly damaging	0.75
R0277:Palm3	UTSW	8	84,755,349 (GRCm39)	missense	probably damaging	1.00
R0323:Palm3	UTSW	8	84,755,349 (GRCm39)	missense	probably damaging	1.00
R0422:Palm3	UTSW	8	84,755,492 (GRCm39)	missense	possibly damaging	0.94
R0507:Palm3	UTSW	8	84,754,958 (GRCm39)	missense	probably benign	0.00
R0835:Palm3	UTSW	8	84,754,776 (GRCm39)	missense	probably benign
R1037:Palm3	UTSW	8	84,755,901 (GRCm39)	missense	probably benign
R1618:Palm3	UTSW	8	84,756,291 (GRCm39)	missense	possibly damaging	0.92
R1621:Palm3	UTSW	8	84,756,651 (GRCm39)	missense	possibly damaging	0.93
R1797:Palm3	UTSW	8	84,755,432 (GRCm39)	missense	probably benign	0.00
R1989:Palm3	UTSW	8	84,756,651 (GRCm39)	missense	possibly damaging	0.93
R3618:Palm3	UTSW	8	84,755,973 (GRCm39)	missense	probably benign	0.00
R3619:Palm3	UTSW	8	84,755,973 (GRCm39)	missense	probably benign	0.00
R4495:Palm3	UTSW	8	84,753,495 (GRCm39)	missense	probably damaging	1.00
R4588:Palm3	UTSW	8	84,756,015 (GRCm39)	missense	probably benign	0.20
R4687:Palm3	UTSW	8	84,756,564 (GRCm39)	missense	probably benign	0.00
R4948:Palm3	UTSW	8	84,753,708 (GRCm39)	nonsense	probably null
R5265:Palm3	UTSW	8	84,748,159 (GRCm39)	critical splice donor site	probably null
R5951:Palm3	UTSW	8	84,756,049 (GRCm39)	missense	probably benign	0.02
R6580:Palm3	UTSW	8	84,756,177 (GRCm39)	missense	probably damaging	1.00
R7237:Palm3	UTSW	8	84,756,117 (GRCm39)	missense	probably benign	0.00
R7562:Palm3	UTSW	8	84,748,136 (GRCm39)	missense	possibly damaging	0.87
R7676:Palm3	UTSW	8	84,756,074 (GRCm39)	missense	possibly damaging	0.90
R7923:Palm3	UTSW	8	84,756,090 (GRCm39)	missense	probably benign
R8118:Palm3	UTSW	8	84,756,438 (GRCm39)	missense	probably damaging	1.00
R8680:Palm3	UTSW	8	84,756,504 (GRCm39)	missense	probably damaging	1.00
R9500:Palm3	UTSW	8	84,753,636 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07