Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Cald1'

503836

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

4833423D12Rik, C920027I18Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6218 (G1)

Quality Score

159.468

Status

Validated

Chromosome

Chromosomal Location

34598500-34775473 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CAAAA to CAAA at 34747928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031775] [ENSMUST00000079391] [ENSMUST00000115021] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000126181] [ENSMUST00000142512] [ENSMUST00000149009]

AlphaFold

E9QA15

Predicted Effect

probably null
Transcript: ENSMUST00000031775

SMART Domains

Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	25	542	5.7e-256	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079391

SMART Domains

Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Caldesmon	31	522	4.3e-260	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115021

SMART Domains

Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	25	518	7.5e-259	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115026

SMART Domains

Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Caldesmon	31	524	4.9e-259	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115027

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Caldesmon	31	363	8.4e-34	PFAM
Pfam:Caldesmon	243	755	3.8e-144	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123823

SMART Domains

Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	1	210	4e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126181

SMART Domains

Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	1	138	7.6e-51	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136907

SMART Domains

Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	50	354	4.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142512

SMART Domains

Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Pfam:Caldesmon	31	253	9.4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142716

SMART Domains

Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	1	274	2.7e-63	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146685

Predicted Effect

probably benign
Transcript: ENSMUST00000149009

SMART Domains

Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761

Domain	Start	End	E-Value	Type
Pfam:Caldesmon	25	507	2e-247	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Some homozygous mutant mice develop hernia and those that do, die within 5-7 hours after birth. Mice homozygous for a different targeted allele fail to develop. Mice heterozygous for this allele exhibit increased urinary bladder weight, smooth muscle bundles and non-voiding contractions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Cald1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cald1	APN	6	34762261	missense	possibly damaging	0.66
IGL01456:Cald1	APN	6	34764996	missense	probably damaging	1.00
IGL01822:Cald1	APN	6	34753572	missense	probably damaging	0.99
IGL01959:Cald1	APN	6	34753468	missense	probably damaging	1.00
IGL02307:Cald1	APN	6	34753455	missense	probably damaging	1.00
IGL03122:Cald1	APN	6	34765028	missense	probably damaging	1.00
R0060:Cald1	UTSW	6	34715459	intron	probably benign
R0071:Cald1	UTSW	6	34758134	splice site	probably benign
R0071:Cald1	UTSW	6	34758134	splice site	probably benign
R0701:Cald1	UTSW	6	34746173	frame shift	probably null
R0776:Cald1	UTSW	6	34746173	frame shift	probably null
R1053:Cald1	UTSW	6	34755642	missense	probably damaging	1.00
R1696:Cald1	UTSW	6	34745711	missense	probably damaging	1.00
R2025:Cald1	UTSW	6	34746173	frame shift	probably null
R2157:Cald1	UTSW	6	34686041	missense	possibly damaging	0.86
R2973:Cald1	UTSW	6	34757996	unclassified	probably benign
R3839:Cald1	UTSW	6	34745765	missense	probably damaging	1.00
R4116:Cald1	UTSW	6	34745719	missense	probably damaging	1.00
R4674:Cald1	UTSW	6	34746173	frame shift	probably null
R5140:Cald1	UTSW	6	34753580	missense	probably damaging	1.00
R5254:Cald1	UTSW	6	34746416	intron	probably benign
R5620:Cald1	UTSW	6	34762112	missense	probably damaging	1.00
R5648:Cald1	UTSW	6	34762332	splice site	probably null
R5651:Cald1	UTSW	6	34762320	missense	probably damaging	0.98
R5783:Cald1	UTSW	6	34753533	missense	possibly damaging	0.51
R5872:Cald1	UTSW	6	34771108	nonsense	probably null
R5999:Cald1	UTSW	6	34746338	intron	probably benign
R6347:Cald1	UTSW	6	34765046	missense	probably damaging	1.00
R6598:Cald1	UTSW	6	34746640	critical splice donor site	probably null
R7120:Cald1	UTSW	6	34686076	critical splice donor site	probably null
R7147:Cald1	UTSW	6	34746296	missense
R7385:Cald1	UTSW	6	34686065	missense	probably damaging	0.99
R7516:Cald1	UTSW	6	34709557	start gained	probably benign
R7841:Cald1	UTSW	6	34745761	missense	unknown
R8732:Cald1	UTSW	6	34758011	missense	unknown
R9151:Cald1	UTSW	6	34755747	missense	unknown
R9184:Cald1	UTSW	6	34753577	missense	unknown
R9529:Cald1	UTSW	6	34686012	missense	probably damaging	1.00
R9792:Cald1	UTSW	6	34746136	missense
R9793:Cald1	UTSW	6	34746136	missense
R9795:Cald1	UTSW	6	34746136	missense
X0064:Cald1	UTSW	6	34746205	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGATGACAAGCCACTAGC -3'
(R):5'- TGGAGGCACCTATACAATCTCATCAG -3'

Sequencing Primer
(F):5'- ACTAGCACCAGGTACCACTG -3'
(R):5'- GTGACTCATGAGCCACAGTCTG -3'

Posted On

2018-02-27