Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Clmn'

153896

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clmn

Ensembl Gene

ENSMUSG00000021097

Gene Name

calmin

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

104763117-104865076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104782140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 383 (I383V)

Ref Sequence

ENSEMBL: ENSMUSP00000152070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109936] [ENSMUST00000109937] [ENSMUST00000222323] [ENSMUST00000223103] [ENSMUST00000223177] [ENSMUST00000223342]

AlphaFold

Q8C5W0

Predicted Effect

probably benign
Transcript: ENSMUST00000109936
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: I383V

Domain	Start	End	E-Value	Type
CH	34	137	2.29e-19	SMART
low complexity region	144	168	N/A	INTRINSIC
CH	189	286	9.9e-15	SMART
low complexity region	471	482	N/A	INTRINSIC
low complexity region	633	650	N/A	INTRINSIC
low complexity region	679	691	N/A	INTRINSIC
low complexity region	777	801	N/A	INTRINSIC
low complexity region	869	887	N/A	INTRINSIC
low complexity region	949	965	N/A	INTRINSIC
transmembrane domain	996	1013	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109937
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: I383V

Domain	Start	End	E-Value	Type
CH	34	137	2.29e-19	SMART
low complexity region	144	168	N/A	INTRINSIC
CH	189	286	9.9e-15	SMART
low complexity region	471	482	N/A	INTRINSIC
low complexity region	633	650	N/A	INTRINSIC
low complexity region	679	691	N/A	INTRINSIC
low complexity region	777	801	N/A	INTRINSIC
low complexity region	869	887	N/A	INTRINSIC
low complexity region	949	965	N/A	INTRINSIC
transmembrane domain	1027	1044	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000222323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222412

Predicted Effect

probably benign
Transcript: ENSMUST00000223103
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000223177
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000223342
AA Change: I383V

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Stambpl1	A	T	19: 34,240,027	H422L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	probably benign	Het

Other mutations in Clmn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Clmn	APN	12	104774551	critical splice acceptor site	probably null
IGL01509:Clmn	APN	12	104780903	missense	probably benign	0.00
IGL01530:Clmn	APN	12	104791856	missense	probably damaging	1.00
IGL01768:Clmn	APN	12	104781719	missense	probably damaging	0.99
IGL02139:Clmn	APN	12	104781099	missense	probably benign	0.01
IGL02157:Clmn	APN	12	104781918	missense	probably benign	0.00
IGL02519:Clmn	APN	12	104791853	missense	probably damaging	1.00
IGL02820:Clmn	APN	12	104773234	missense	probably damaging	0.99
IGL03036:Clmn	APN	12	104774523	missense	probably damaging	0.97
R0255:Clmn	UTSW	12	104781764	missense	probably benign
R0478:Clmn	UTSW	12	104785491	missense	probably damaging	0.99
R0739:Clmn	UTSW	12	104781017	missense	possibly damaging	0.55
R0761:Clmn	UTSW	12	104781558	missense	probably damaging	0.99
R0834:Clmn	UTSW	12	104771826	missense	probably damaging	1.00
R0834:Clmn	UTSW	12	104771827	missense	probably damaging	1.00
R0864:Clmn	UTSW	12	104790015	missense	possibly damaging	0.94
R1569:Clmn	UTSW	12	104781081	missense	probably damaging	1.00
R1638:Clmn	UTSW	12	104782022	missense	probably benign	0.13
R1940:Clmn	UTSW	12	104790102	missense	probably damaging	1.00
R1974:Clmn	UTSW	12	104791862	missense	probably damaging	1.00
R2113:Clmn	UTSW	12	104780808	missense	probably benign
R4815:Clmn	UTSW	12	104785566	missense	probably damaging	1.00
R4863:Clmn	UTSW	12	104797094	missense	probably damaging	1.00
R4883:Clmn	UTSW	12	104782048	missense	probably benign	0.04
R5577:Clmn	UTSW	12	104777070	missense	probably damaging	1.00
R5853:Clmn	UTSW	12	104783902	splice site	probably null
R5867:Clmn	UTSW	12	104781755	missense	probably damaging	0.98
R6041:Clmn	UTSW	12	104781872	missense	probably benign	0.00
R6093:Clmn	UTSW	12	104771956	missense	probably benign	0.00
R6233:Clmn	UTSW	12	104785455	missense	probably damaging	1.00
R6239:Clmn	UTSW	12	104780845	missense	probably benign	0.00
R6628:Clmn	UTSW	12	104773786	missense	probably damaging	1.00
R6771:Clmn	UTSW	12	104773782	missense	probably benign	0.04
R7448:Clmn	UTSW	12	104785428	missense	possibly damaging	0.90
R7633:Clmn	UTSW	12	104782112	missense	probably benign
R8901:Clmn	UTSW	12	104780952	missense	probably benign	0.20
R8937:Clmn	UTSW	12	104797082	missense	probably damaging	1.00
R9654:Clmn	UTSW	12	104781934	missense	probably damaging	0.99
X0028:Clmn	UTSW	12	104785402	missense	probably benign	0.11
Z1177:Clmn	UTSW	12	104781376	missense	probably benign	0.27

Posted On

2014-02-04