Mutagenetix > Incidental Mutation

Incidental Mutation 'R1696:Cald1'

192213

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

C920027I18Rik, 4833423D12Rik

MMRRC Submission

039729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1696 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34575433-34752404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34722646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 104 (E104G)

Ref Sequence

ENSEMBL: ENSMUSP00000122926 (fasta)

Gene Model

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

AlphaFold

E9QA15

Predicted Effect

probably damaging
Transcript: ENSMUST00000031775
AA Change: E98G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: E98G

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

Predicted Effect

unknown
Transcript: ENSMUST00000079391
AA Change: E104G

SMART Domains

Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: E104G

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

Predicted Effect

unknown
Transcript: ENSMUST00000115021
AA Change: E98G

SMART Domains

Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: E98G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115026
AA Change: E104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: E104G

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: E104G

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: E104G

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: ENSMUST00000149009
AA Change: E98G

SMART Domains

Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: E98G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142512
AA Change: E104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: E104G

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: ENSMUST00000146685

Predicted Effect

probably benign
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: ENSMUST00000142716

SMART Domains

Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,260,022 (GRCm39)	T25A	possibly damaging	Het
Abca17	T	C	17: 24,486,632 (GRCm39)	Y1465C	possibly damaging	Het
Adgrb1	C	T	15: 74,459,956 (GRCm39)	R530W	probably damaging	Het
Ak9	A	G	10: 41,203,585 (GRCm39)	T159A	possibly damaging	Het
Akap13	G	A	7: 75,259,340 (GRCm39)	G655S	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef2	T	A	2: 166,703,558 (GRCm39)	M870K	probably damaging	Het
Arhgef33	T	C	17: 80,656,935 (GRCm39)	F150S	probably damaging	Het
Arid2	A	T	15: 96,268,064 (GRCm39)	T726S	probably benign	Het
Atf7ip2	G	A	16: 10,052,195 (GRCm39)	V225I	probably damaging	Het
Atp12a	A	T	14: 56,603,545 (GRCm39)	E50V	probably damaging	Het
Bdkrb1	A	G	12: 105,570,761 (GRCm39)	N109S	probably benign	Het
Capn15	A	G	17: 26,183,878 (GRCm39)	V267A	probably benign	Het
Ccng2	A	T	5: 93,421,241 (GRCm39)	K250N	possibly damaging	Het
Ccr10	T	A	11: 101,065,210 (GRCm39)	N107Y	probably benign	Het
Cntn2	T	C	1: 132,449,017 (GRCm39)	N664S	probably damaging	Het
Cyp24a1	T	G	2: 170,327,963 (GRCm39)	E426D	probably benign	Het
Cyp26a1	A	G	19: 37,689,626 (GRCm39)	S441G	probably benign	Het
Cyp4f14	T	A	17: 33,128,145 (GRCm39)	K290M	possibly damaging	Het
Dcp2	T	A	18: 44,533,391 (GRCm39)	L114Q	probably damaging	Het
Dhrs7	A	G	12: 72,699,894 (GRCm39)	F246S	possibly damaging	Het
Dlg1	T	C	16: 31,600,616 (GRCm39)	V167A	probably damaging	Het
Dnmt3b	A	T	2: 153,518,630 (GRCm39)	K598*	probably null	Het
Dph7	T	C	2: 24,859,692 (GRCm39)		probably null	Het
Ehbp1	T	C	11: 22,003,441 (GRCm39)	M1103V	probably damaging	Het
Ell2	T	C	13: 75,917,677 (GRCm39)	S536P	probably damaging	Het
Ero1a	A	T	14: 45,537,392 (GRCm39)	V178E	probably damaging	Het
Faf2	T	A	13: 54,786,067 (GRCm39)	*50R	probably null	Het
Fbxl14	A	T	6: 119,457,107 (GRCm39)	N96I	probably damaging	Het
Fcrl2	T	C	3: 87,166,825 (GRCm39)	Y56C	possibly damaging	Het
Foxc1	T	A	13: 31,992,782 (GRCm39)	M531K	unknown	Het
Foxp1	A	C	6: 98,922,663 (GRCm39)	S391A	probably benign	Het
Frem2	A	T	3: 53,563,463 (GRCm39)	L348*	probably null	Het
Fsd1	T	A	17: 56,295,257 (GRCm39)		probably null	Het
Gab2	A	G	7: 96,872,840 (GRCm39)	E81G	probably damaging	Het
Gcat	G	A	15: 78,919,995 (GRCm39)	V196M	probably damaging	Het
Gfy	T	C	7: 44,827,470 (GRCm39)	T209A	possibly damaging	Het
Ggt7	T	C	2: 155,336,899 (GRCm39)	N531S	possibly damaging	Het
Gnai3	A	G	3: 108,016,775 (GRCm39)	I343T	probably damaging	Het
H2-DMa	A	T	17: 34,357,387 (GRCm39)	Q220L	probably benign	Het
Heatr1	A	G	13: 12,438,602 (GRCm39)	I1346V	possibly damaging	Het
Igfbp1	T	A	11: 7,147,978 (GRCm39)	V7D	probably benign	Het
Igfbp1	T	C	11: 7,151,922 (GRCm39)	W242R	probably damaging	Het
Kbtbd2	T	G	6: 56,756,326 (GRCm39)	K470T	probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Klhl25	G	T	7: 75,516,591 (GRCm39)	G499V	probably damaging	Het
Krt7	A	T	15: 101,321,307 (GRCm39)	T375S	probably benign	Het
Krt73	G	A	15: 101,708,344 (GRCm39)	L238F	probably damaging	Het
Lama5	G	T	2: 179,844,279 (GRCm39)	H331Q	probably damaging	Het
Leng8	T	G	7: 4,148,135 (GRCm39)	F663V	probably damaging	Het
Lrp12	G	T	15: 39,741,757 (GRCm39)	H338Q	probably damaging	Het
Lrp6	T	A	6: 134,445,686 (GRCm39)	R1042S	probably damaging	Het
Map6	T	A	7: 98,966,664 (GRCm39)		probably null	Het
Mdn1	T	C	4: 32,700,417 (GRCm39)	F1459L	possibly damaging	Het
Mmp1b	T	C	9: 7,386,699 (GRCm39)	T142A	probably damaging	Het
Mmp23	T	A	4: 155,735,166 (GRCm39)	*392C	probably null	Het
Nlrp4a	C	T	7: 26,149,959 (GRCm39)	S522F	probably damaging	Het
Nup93	T	G	8: 95,023,183 (GRCm39)	F254V	probably benign	Het
Oas1h	G	T	5: 121,000,885 (GRCm39)		probably null	Het
Ocstamp	A	G	2: 165,238,094 (GRCm39)	L390P	probably damaging	Het
Olfm1	C	A	2: 28,098,128 (GRCm39)	Y20*	probably null	Het
Or10ac1	C	T	6: 42,515,537 (GRCm39)	V140M	probably benign	Het
Or13a26	A	T	7: 140,284,409 (GRCm39)	K82*	probably null	Het
Or52ae7	T	C	7: 103,119,384 (GRCm39)	V46A	probably benign	Het
Or5as1	A	G	2: 86,980,724 (GRCm39)	F94L	probably benign	Het
Or7g33	A	G	9: 19,449,190 (GRCm39)	F12S	probably damaging	Het
Pgghg	T	C	7: 140,525,224 (GRCm39)	V410A	possibly damaging	Het
Polr2b	T	A	5: 77,490,495 (GRCm39)	D878E	probably benign	Het
Pspc1	T	C	14: 57,001,700 (GRCm39)	T225A	probably benign	Het
Rad21l	A	T	2: 151,510,447 (GRCm39)	Y3N	probably damaging	Het
Rbl2	A	G	8: 91,812,352 (GRCm39)	N280S	probably benign	Het
Rdm1	C	A	11: 101,521,694 (GRCm39)	Q150K	probably benign	Het
Ro60	T	A	1: 143,633,575 (GRCm39)	I508F	probably damaging	Het
Rrp12	A	T	19: 41,862,188 (GRCm39)	F932I	probably damaging	Het
Ryr2	A	T	13: 11,746,543 (GRCm39)	M2003K	probably benign	Het
Scfd2	T	C	5: 74,691,539 (GRCm39)	T248A	probably benign	Het
Slc22a16	G	A	10: 40,460,923 (GRCm39)	A242T	possibly damaging	Het
Slit3	C	A	11: 35,566,750 (GRCm39)	N1007K	probably damaging	Het
Sntg2	C	A	12: 30,317,062 (GRCm39)	G187C	probably damaging	Het
Spag5	T	C	11: 78,212,152 (GRCm39)	V1060A	probably damaging	Het
Spg7	G	A	8: 123,816,964 (GRCm39)	V552I	probably benign	Het
Spns2	T	A	11: 72,347,173 (GRCm39)	T434S	probably benign	Het
Srpk2	C	T	5: 23,753,492 (GRCm39)	W87*	probably null	Het
St3gal3	T	C	4: 117,797,589 (GRCm39)	I268V	possibly damaging	Het
Stat6	T	C	10: 127,488,918 (GRCm39)	C356R	probably damaging	Het
Stx8	A	G	11: 67,902,248 (GRCm39)	Q144R	probably damaging	Het
Tcn2	C	A	11: 3,872,169 (GRCm39)	L319F	probably damaging	Het
Tex14	T	C	11: 87,402,371 (GRCm39)	I486T	possibly damaging	Het
Thtpa	T	C	14: 55,333,242 (GRCm39)	V109A	probably benign	Het
Tmem127	C	A	2: 127,090,627 (GRCm39)	L48I	probably damaging	Het
Tnfaip8	A	T	18: 50,223,290 (GRCm39)	K9*	probably null	Het
Tnfrsf1b	T	A	4: 144,954,044 (GRCm39)	T102S	probably benign	Het
Tor1aip1	A	T	1: 155,893,262 (GRCm39)	M110K	possibly damaging	Het
Trim10	A	T	17: 37,188,073 (GRCm39)	K430*	probably null	Het
Trpv6	A	G	6: 41,598,702 (GRCm39)	V641A	possibly damaging	Het
Ttf1	T	G	2: 28,960,014 (GRCm39)	Y541D	probably damaging	Het
Ttn	A	G	2: 76,594,750 (GRCm39)	V20432A	probably damaging	Het
Vac14	A	T	8: 111,359,079 (GRCm39)		probably null	Het
Vipr2	G	T	12: 116,102,777 (GRCm39)	A296S	probably benign	Het
Vmn1r1	T	C	1: 181,985,624 (GRCm39)	R14G	probably benign	Het
Vmn1r178	T	A	7: 23,593,625 (GRCm39)	N151K	probably damaging	Het
Vmn1r58	T	A	7: 5,413,727 (GRCm39)	I168F	possibly damaging	Het
Vmn1r77	C	T	7: 11,775,547 (GRCm39)	Q40*	probably null	Het
Vmn2r76	T	C	7: 85,880,464 (GRCm39)	N74S	possibly damaging	Het
Zc2hc1c	T	A	12: 85,337,555 (GRCm39)	M404K	possibly damaging	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
R2025:Cald1	UTSW	6	34,723,108 (GRCm39)	frame shift	probably null
R2157:Cald1	UTSW	6	34,662,976 (GRCm39)	missense	possibly damaging	0.86
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'- AGCATAGAGTGGTGACATCTACGGG -3'
(R):5'- CGTTTTCCAATACCATCAGCACAGC -3'

Sequencing Primer
(F):5'- ACATCTACGGGCATGTGAGC -3'
(R):5'- AGGACTTGATGACCACTTCTG -3'

Posted On

2014-05-14