Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Cald1'

399337

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

4833423D12Rik, C920027I18Rik

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34598500-34775473 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 34746416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138368 (fasta)

Gene Model

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

AlphaFold

E9QA15

Predicted Effect

probably benign
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

unknown
Transcript: ENSMUST00000115027
AA Change: E339G

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: E339G

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 benign
Transcript: ENSMUST00000123823

SMART Domains

Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126181

SMART Domains

Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761

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

Predicted Effect

unknown
Transcript: ENSMUST00000136907
AA Change: E145G

SMART Domains

Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: E145G

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

unknown
Transcript: ENSMUST00000142716
AA Change: E10G

SMART Domains

Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
AA Change: E10G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154182

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,458,398	C296*	probably null	Het
Adam11	T	A	11: 102,774,272	Y413*	probably null	Het
Ankhd1	A	G	18: 36,656,715	I907V	probably benign	Het
Arrdc5	A	G	17: 56,297,897	I130T	probably benign	Het
Asic5	T	A	3: 82,020,987	I419K	probably damaging	Het
Atp4a	A	T	7: 30,715,530	E248V	probably damaging	Het
Avil	C	A	10: 127,011,761	V154L	probably benign	Het
Bclaf1	T	A	10: 20,323,536	H226Q	possibly damaging	Het
Cd200r4	A	C	16: 44,832,090	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,552,202	M1K	probably null	Het
Cfap46	T	A	7: 139,678,514	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,062,606	F533L	probably benign	Het
Chil4	T	A	3: 106,219,452	I5F	probably benign	Het
Ctu2	A	T	8: 122,476,588	R48W	probably damaging	Het
Daam1	A	T	12: 71,946,576	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415	Y328N	possibly damaging	Het
Dst	A	T	1: 34,177,931	K1151*	probably null	Het
Ect2	T	C	3: 27,130,070	D503G	probably damaging	Het
Epm2a	C	A	10: 11,457,345	D307E	probably benign	Het
Exph5	A	T	9: 53,337,930	D73V	probably damaging	Het
Fam20b	C	T	1: 156,705,740	G102D	probably damaging	Het
Fat2	T	C	11: 55,281,175	N2904S	probably damaging	Het
Flt3	T	A	5: 147,375,690	Q147L	possibly damaging	Het
Fndc11	A	G	2: 181,222,163	T254A	possibly damaging	Het
Galnt15	C	T	14: 32,058,287	R514*	probably null	Het
Gbgt1	A	G	2: 28,505,208	D286G	probably damaging	Het
Ggt1	T	A	10: 75,579,198		probably null	Het
Gm26526	A	T	7: 39,589,234		noncoding transcript	Het
H2-K1	T	C	17: 33,997,462	T237A	probably damaging	Het
Igf1r	T	A	7: 68,207,319	S1010T	probably damaging	Het
Il21	T	C	3: 37,227,735	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,569,175	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,314,594	P2173S	probably benign	Het
Krt1	A	T	15: 101,846,368	S512T	unknown	Het
Krtap16-1	G	A	11: 99,985,598	R327*	probably null	Het
Lama1	T	A	17: 67,756,716	I745N	probably benign	Het
Lrrk1	T	A	7: 66,307,107	N372I	probably benign	Het
Lyst	A	T	13: 13,683,070	E2481D	probably benign	Het
Map2k1	A	T	9: 64,187,745		probably benign	Het
Mbip	A	G	12: 56,337,443	V215A	probably damaging	Het
Mdc1	T	A	17: 35,847,922	V398D	probably benign	Het
Mog	T	G	17: 37,012,372	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 47,309,436		noncoding transcript	Het
Muc5b	C	T	7: 141,864,540	S3741L	probably benign	Het
Myo5a	A	T	9: 75,130,120	I202F	probably damaging	Het
Myo5b	A	T	18: 74,700,606	I818F	possibly damaging	Het
Nfia	T	A	4: 98,014,297	M262K	probably damaging	Het
Nisch	C	T	14: 31,206,567		probably null	Het
Nkd1	A	G	8: 88,589,194	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,893,560	K284*	probably null	Het
Olfr1052	A	T	2: 86,297,921	Y35F	probably damaging	Het
Olfr1058	A	T	2: 86,386,140	S93T	possibly damaging	Het
Olfr262	A	G	19: 12,241,248	S138P	probably damaging	Het
Olfr305	A	T	7: 86,364,190	V49E	possibly damaging	Het
Olfr619	T	G	7: 103,603,789	I45R	probably benign	Het
Olfr723	A	T	14: 49,928,779	I255N	probably damaging	Het
Olfr725	C	A	14: 50,034,678	A242S	possibly damaging	Het
Olfr972	A	T	9: 39,873,445	T57S	possibly damaging	Het
Pcdhb17	A	T	18: 37,486,825	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,726,620	D243V	probably benign	Het
Polq	A	T	16: 37,089,319	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,182,738	Y506*	probably null	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tarbp1	G	A	8: 126,467,156	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,627,547	F13V	probably benign	Het
Tgfb2	A	G	1: 186,704,483	Y98H	probably damaging	Het
Tmprss11a	C	A	5: 86,411,806	V376L	probably damaging	Het
Tmprss11f	T	A	5: 86,538,033	K158N	probably benign	Het
Tnip2	G	T	5: 34,503,578	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075		probably null	Het
Ttc28	C	T	5: 111,271,238	P1398S	probably benign	Het
Umodl1	T	G	17: 30,980,359	I308S	possibly damaging	Het
Vcan	A	T	13: 89,691,600	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,063,077	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,825,318	C542S	probably damaging	Het
Wiz	T	A	17: 32,378,496		probably benign	Het
Wrap73	A	G	4: 154,155,346	Y343C	probably benign	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
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
R6218:Cald1	UTSW	6	34747928	frame shift	probably null
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'- CATGGAGGAGATAGCCCGTC -3'
(R):5'- TGTACCTGCGTCTTTGGGAC -3'

Sequencing Primer
(F):5'- AGAATCAAAGCTGAGCAGGAC -3'
(R):5'- ACAGCTGTCTGAAGTCTGTC -3'

Posted On

2016-07-06