Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Clmn'

173322

Institutional Source

Beutler Lab

Gene Symbol

Clmn

Ensembl Gene

ENSMUSG00000021097

Gene Name

calmin

Synonyms

MMRRC Submission

039674-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104763117-104865076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104782022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

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: V422A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105562
Gene: ENSMUSG00000021097
AA Change: V422A

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: V422A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105563
Gene: ENSMUSG00000021097
AA Change: V422A

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: V422A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223177
AA Change: V422A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000223342
AA Change: V422A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,035,812	R4130*	probably null	Het
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,893,538	Q497L	probably damaging	Het
Ahnak	A	G	19: 9,009,449	H2699R	probably benign	Het
Antxrl	G	T	14: 34,070,496		probably null	Het
Apol7c	A	T	15: 77,526,218	V176E	probably damaging	Het
Arid5b	T	C	10: 68,277,947	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,432,698	I560N	probably damaging	Het
Atp2c2	T	C	8: 119,756,003	F868S	possibly damaging	Het
Blnk	G	C	19: 40,937,678	F326L	probably benign	Het
Ckap2	C	T	8: 22,175,796	V412I	possibly damaging	Het
Ctnnal1	A	G	4: 56,813,856	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,635,815	S327G	probably benign	Het
Dhx38	G	A	8: 109,553,545	T871M	probably damaging	Het
Dmxl1	A	T	18: 49,890,767	K1706*	probably null	Het
Dnah11	A	G	12: 118,015,419	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,308,109	T60I	probably damaging	Het
Fam120b	T	A	17: 15,402,497	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,745,895	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,249,748	I428F	probably damaging	Het
Galnt13	T	A	2: 54,854,655	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908	Y8F	probably benign	Het
Gnptab	A	G	10: 88,436,167	I940V	possibly damaging	Het
Gp2	A	G	7: 119,451,498		probably null	Het
Gpr6	A	G	10: 41,070,534	S351P	probably benign	Het
Gprin1	T	C	13: 54,739,876	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,883	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,405,119	N703K	probably damaging	Het
H2afy	T	A	13: 56,104,909	N87Y	probably damaging	Het
Hhipl2	G	A	1: 183,428,013	V495I	probably benign	Het
Islr	G	A	9: 58,158,219		probably benign	Het
Lrrc36	T	C	8: 105,449,641	Y216H	possibly damaging	Het
Me2	A	G	18: 73,773,134	I528T	probably benign	Het
Mecr	A	T	4: 131,857,816	I156F	possibly damaging	Het
Megf6	A	G	4: 154,262,510		probably benign	Het
Mn1	T	A	5: 111,421,569	L1135H	probably damaging	Het
Naip5	A	G	13: 100,212,669	S1384P	probably damaging	Het
Nav2	A	G	7: 49,452,465	N337S	probably benign	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Neb	A	T	2: 52,249,281	H3107Q	probably benign	Het
Nebl	A	G	2: 17,376,651	V738A	possibly damaging	Het
Nsd2	G	A	5: 33,882,120	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,627,586	N383S	probably damaging	Het
Ntrk3	A	T	7: 78,247,288	M667K	probably damaging	Het
Olfr389	A	G	11: 73,777,148	Y60H	possibly damaging	Het
Olfr514	A	C	7: 108,825,235	C255G	probably benign	Het
Olfr745	G	A	14: 50,643,108	V276M	possibly damaging	Het
Olfr791	A	T	10: 129,526,619	M131L	probably benign	Het
Pex6	T	C	17: 46,722,632	V633A	probably benign	Het
Phactr1	C	T	13: 42,956,671	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,687,209	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,597,117	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,220,263	E248G	probably damaging	Het
Prepl	A	C	17: 85,072,081	M393R	probably benign	Het
Ptpn6	T	C	6: 124,721,185	S532G	probably benign	Het
Rnase11	G	T	14: 51,049,601	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,372,060	N172S	possibly damaging	Het
Shprh	T	A	10: 11,157,078	D269E	probably benign	Het
Slc16a1	T	C	3: 104,649,482	I61T	possibly damaging	Het
Slc38a2	A	C	15: 96,692,536	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149	Q170H	unknown	Het
Stk3	A	C	15: 35,008,308		probably null	Het
Tg	C	A	15: 66,696,166	C1306*	probably null	Het
Tnik	A	G	3: 28,665,740	M1254V	probably damaging	Het
U2surp	T	C	9: 95,484,227	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,325	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,552,955	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,516,483	D15G	probably benign	Het
Zfp827	C	A	8: 79,076,346	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,684,907		probably null	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
IGL01779:Clmn	APN	12	104782140	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTCTACAGTGCCGTTACAGAAG -3'
(R):5'- TAGTGCTCCCAGCCACAAACTGTC -3'

Sequencing Primer
(F):5'- ATCTTGGGGCACAGCATC -3'
(R):5'- TCAGACAGCTCCACAGAGTTTATG -3'

Posted On

2014-04-24