Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02950:Gm43738'

364926

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm43738

Ensembl Gene

ENSMUSG00000105204

Gene Name

predicted gene 43738

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02950

Quality Score

Status

Chromosome

Chromosomal Location

88989246-89008406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88996355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 120 (L120R)

Ref Sequence

ENSEMBL: ENSMUSP00000130477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052539] [ENSMUST00000081848] [ENSMUST00000090929] [ENSMUST00000166687] [ENSMUST00000196043] [ENSMUST00000196223] [ENSMUST00000196254] [ENSMUST00000200659] [ENSMUST00000196709]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052539
AA Change: L582R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: L582R

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	577	588	N/A	INTRINSIC
RUN	589	657	2.75e-16	SMART
low complexity region	669	683	N/A	INTRINSIC
low complexity region	702	714	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
SH3	838	893	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081848

SMART Domains

Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	47	313	2e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090929
AA Change: L719R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: L719R

Domain	Start	End	E-Value	Type
low complexity region	95	117	N/A	INTRINSIC
low complexity region	149	165	N/A	INTRINSIC
internal_repeat_1	195	244	5.11e-5	PROSPERO
internal_repeat_1	247	292	5.11e-5	PROSPERO
low complexity region	374	383	N/A	INTRINSIC
low complexity region	389	402	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
low complexity region	463	479	N/A	INTRINSIC
low complexity region	522	543	N/A	INTRINSIC
low complexity region	546	584	N/A	INTRINSIC
low complexity region	714	725	N/A	INTRINSIC
RUN	726	794	2.75e-16	SMART
low complexity region	806	820	N/A	INTRINSIC
low complexity region	839	851	N/A	INTRINSIC
low complexity region	890	907	N/A	INTRINSIC
SH3	975	1030	4.32e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166687
AA Change: L120R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263
AA Change: L120R

Domain	Start	End	E-Value	Type
low complexity region	115	126	N/A	INTRINSIC
RUN	127	195	2.75e-16	SMART
low complexity region	207	221	N/A	INTRINSIC
low complexity region	240	252	N/A	INTRINSIC
low complexity region	291	308	N/A	INTRINSIC
SH3	376	431	4.32e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196043

SMART Domains

Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263

Domain	Start	End	E-Value	Type
PDB:4GIW\|B	8	79	5e-45	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000196223
AA Change: L120R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263
AA Change: L120R

Domain	Start	End	E-Value	Type
Pfam:RUN	61	166	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196254

SMART Domains

Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	1	238	3.6e-60	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200659
AA Change: L553R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: L553R

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:polyprenyl_synt	111	334	3.2e-55	PFAM
low complexity region	548	559	N/A	INTRINSIC
RUN	560	628	9.3e-19	SMART
low complexity region	640	654	N/A	INTRINSIC
low complexity region	673	685	N/A	INTRINSIC
low complexity region	724	741	N/A	INTRINSIC
SH3	809	862	2.8e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200357

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198506

Predicted Effect

probably benign
Transcript: ENSMUST00000196709

SMART Domains

Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743

Domain	Start	End	E-Value	Type
Pfam:polyprenyl_synt	44	316	8.7e-84	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,814,406 (GRCm39)	S1129C	possibly damaging	Het
Afm	A	T	5: 90,679,466 (GRCm39)	D320V	probably damaging	Het
Ap5m1	C	T	14: 49,311,392 (GRCm39)	T154I	probably benign	Het
Bcl11b	G	A	12: 107,956,065 (GRCm39)	T28I	probably benign	Het
Bhlhe40	G	T	6: 108,641,503 (GRCm39)	C149F	probably damaging	Het
Bmper	A	T	9: 23,310,790 (GRCm39)	D408V	probably damaging	Het
C1rl	G	A	6: 124,485,820 (GRCm39)	C397Y	probably damaging	Het
C2cd4c	A	G	10: 79,448,665 (GRCm39)	S161P	probably damaging	Het
Cemip2	A	T	19: 21,819,564 (GRCm39)	K1118N	probably benign	Het
Cep290	T	C	10: 100,376,191 (GRCm39)		probably benign	Het
Cp	T	C	3: 20,042,165 (GRCm39)	Y978H	probably damaging	Het
Csf2ra	T	C	19: 61,215,607 (GRCm39)	D37G	probably benign	Het
Ddx24	A	G	12: 103,383,801 (GRCm39)	V596A	probably damaging	Het
Dnmt3l	A	G	10: 77,886,785 (GRCm39)	S82G	probably benign	Het
Dock1	A	G	7: 134,331,753 (GRCm39)	Y46C	probably damaging	Het
Eno2	A	T	6: 124,740,081 (GRCm39)	D318E	probably damaging	Het
Hgsnat	C	A	8: 26,461,729 (GRCm39)	C29F	probably damaging	Het
Hltf	T	A	3: 20,130,736 (GRCm39)	V318D	probably benign	Het
Kcnh8	A	G	17: 53,263,795 (GRCm39)	H764R	probably benign	Het
Kcnq3	A	G	15: 65,892,142 (GRCm39)	F411S	probably benign	Het
Lpcat4	C	A	2: 112,074,387 (GRCm39)	N287K	possibly damaging	Het
Ltbp4	A	C	7: 27,006,143 (GRCm39)	F1512V	probably damaging	Het
Mctp1	A	T	13: 77,172,929 (GRCm39)	L868F	probably damaging	Het
Mdn1	T	C	4: 32,713,360 (GRCm39)		probably benign	Het
Or5g23	A	T	2: 85,438,501 (GRCm39)	L251Q	possibly damaging	Het
Otub2	A	G	12: 103,369,632 (GRCm39)	D237G	probably damaging	Het
Pax3	A	G	1: 78,079,997 (GRCm39)	V463A	probably benign	Het
Podn	T	C	4: 107,875,048 (GRCm39)	K573R	possibly damaging	Het
Ppp5c	A	C	7: 16,740,835 (GRCm39)	S378A	probably benign	Het
Pramel29	A	G	4: 143,939,531 (GRCm39)	V2A	probably benign	Het
Prl2a1	T	A	13: 27,988,914 (GRCm39)	L13Q	probably damaging	Het
Ptgir	A	G	7: 16,641,526 (GRCm39)	T70A	probably damaging	Het
Ralyl	C	A	3: 14,104,781 (GRCm39)	N15K	probably damaging	Het
Rbck1	C	T	2: 152,172,997 (GRCm39)	R17Q	possibly damaging	Het
Ryr1	A	G	7: 28,796,884 (GRCm39)	Y973H	probably damaging	Het
Sh2d6	A	G	6: 72,492,285 (GRCm39)	V260A	probably damaging	Het
Spen	G	A	4: 141,196,819 (GRCm39)	P3559S	probably damaging	Het
Tbcd	T	A	11: 121,494,535 (GRCm39)	V1032D	probably damaging	Het
Trav12-1	T	A	14: 53,776,024 (GRCm39)	V59E	probably damaging	Het
Unc93a	T	A	17: 13,344,455 (GRCm39)	Q29L	probably damaging	Het
Zzef1	A	G	11: 72,808,525 (GRCm39)		probably benign	Het

Posted On

2015-12-18