Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Cald1'

234903

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

C920027I18Rik, 4833423D12Rik

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34575433-34752404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34662976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 13 (Q13R)

Ref Sequence

ENSEMBL: ENSMUSP00000110678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079391] [ENSMUST00000115026] [ENSMUST00000115027] [ENSMUST00000142512]

AlphaFold

E9QA15

Predicted Effect

unknown
Transcript: ENSMUST00000079391
AA Change: Q13R

SMART Domains

Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: Q13R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115026
AA Change: Q13R

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: Q13R

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: Q13R

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: Q13R

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

possibly damaging
Transcript: ENSMUST00000142512
AA Change: Q13R

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: Q13R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155714

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mbtps1	G	T	8: 120,269,466 (GRCm39)	T208K	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	Het

Other mutations in Cald1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Cald1	APN	6	34,739,196 (GRCm39)	missense	possibly damaging	0.66
IGL01456:Cald1	APN	6	34,741,931 (GRCm39)	missense	probably damaging	1.00
IGL01822:Cald1	APN	6	34,730,507 (GRCm39)	missense	probably damaging	0.99
IGL01959:Cald1	APN	6	34,730,403 (GRCm39)	missense	probably damaging	1.00
IGL02307:Cald1	APN	6	34,730,390 (GRCm39)	missense	probably damaging	1.00
IGL03122:Cald1	APN	6	34,741,963 (GRCm39)	missense	probably damaging	1.00
R0060:Cald1	UTSW	6	34,692,394 (GRCm39)	intron	probably benign
R0071:Cald1	UTSW	6	34,735,069 (GRCm39)	splice site	probably benign
R0071:Cald1	UTSW	6	34,735,069 (GRCm39)	splice site	probably benign
R0701:Cald1	UTSW	6	34,723,108 (GRCm39)	frame shift	probably null
R0776:Cald1	UTSW	6	34,723,108 (GRCm39)	frame shift	probably null
R1053:Cald1	UTSW	6	34,732,577 (GRCm39)	missense	probably damaging	1.00
R1696:Cald1	UTSW	6	34,722,646 (GRCm39)	missense	probably damaging	1.00
R2025:Cald1	UTSW	6	34,723,108 (GRCm39)	frame shift	probably null
R2973:Cald1	UTSW	6	34,734,931 (GRCm39)	unclassified	probably benign
R3839:Cald1	UTSW	6	34,722,700 (GRCm39)	missense	probably damaging	1.00
R4116:Cald1	UTSW	6	34,722,654 (GRCm39)	missense	probably damaging	1.00
R4674:Cald1	UTSW	6	34,723,108 (GRCm39)	frame shift	probably null
R5140:Cald1	UTSW	6	34,730,515 (GRCm39)	missense	probably damaging	1.00
R5254:Cald1	UTSW	6	34,723,351 (GRCm39)	intron	probably benign
R5620:Cald1	UTSW	6	34,739,047 (GRCm39)	missense	probably damaging	1.00
R5648:Cald1	UTSW	6	34,739,267 (GRCm39)	splice site	probably null
R5651:Cald1	UTSW	6	34,739,255 (GRCm39)	missense	probably damaging	0.98
R5783:Cald1	UTSW	6	34,730,468 (GRCm39)	missense	possibly damaging	0.51
R5872:Cald1	UTSW	6	34,748,043 (GRCm39)	nonsense	probably null
R5999:Cald1	UTSW	6	34,723,273 (GRCm39)	intron	probably benign
R6218:Cald1	UTSW	6	34,724,863 (GRCm39)	frame shift	probably null
R6347:Cald1	UTSW	6	34,741,981 (GRCm39)	missense	probably damaging	1.00
R6598:Cald1	UTSW	6	34,723,575 (GRCm39)	critical splice donor site	probably null
R7120:Cald1	UTSW	6	34,663,011 (GRCm39)	critical splice donor site	probably null
R7147:Cald1	UTSW	6	34,723,231 (GRCm39)	missense
R7385:Cald1	UTSW	6	34,663,000 (GRCm39)	missense	probably damaging	0.99
R7516:Cald1	UTSW	6	34,686,492 (GRCm39)	start gained	probably benign
R7841:Cald1	UTSW	6	34,722,696 (GRCm39)	missense	unknown
R8732:Cald1	UTSW	6	34,734,946 (GRCm39)	missense	unknown
R9151:Cald1	UTSW	6	34,732,682 (GRCm39)	missense	unknown
R9184:Cald1	UTSW	6	34,730,512 (GRCm39)	missense	unknown
R9529:Cald1	UTSW	6	34,662,947 (GRCm39)	missense	probably damaging	1.00
R9792:Cald1	UTSW	6	34,723,071 (GRCm39)	missense
R9793:Cald1	UTSW	6	34,723,071 (GRCm39)	missense
R9795:Cald1	UTSW	6	34,723,071 (GRCm39)	missense
X0064:Cald1	UTSW	6	34,723,140 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGTTGCCTTAGCCGTATTC -3'
(R):5'- ACAATGTTCAGCCTCCATAAATACG -3'

Sequencing Primer
(F):5'- AGCCGTATTCTAAGGTGTTTTTC -3'
(R):5'- TTTAGCAGGAAAAATACTTACACCC -3'

Posted On

2014-10-01