Mutagenetix > Incidental Mutation

Incidental Mutation 'R9151:Cald1'

695029

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

C920027I18Rik, 4833423D12Rik

MMRRC Submission

068973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34575433-34752404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34732682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 286 (N286S)

Ref Sequence

ENSEMBL: ENSMUSP00000110673 (fasta)

Gene Model

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

AlphaFold

E9QA15

Predicted Effect

unknown
Transcript: ENSMUST00000031775
AA Change: N310S

SMART Domains

Protein: ENSMUSP00000031775
Gene: ENSMUSG00000029761
AA Change: N310S

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

Predicted Effect

unknown
Transcript: ENSMUST00000079391
AA Change: N290S

SMART Domains

Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: N290S

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: N286S

SMART Domains

Protein: ENSMUSP00000110673
Gene: ENSMUSG00000029761
AA Change: N286S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: N292S

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: N524S

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: N524S

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

SMART Domains

Protein: ENSMUSP00000117064
Gene: ENSMUSG00000029761
AA Change: N161S

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

Predicted Effect

unknown
Transcript: ENSMUST00000126181
AA Change: N118S

SMART Domains

Protein: ENSMUSP00000121911
Gene: ENSMUSG00000029761
AA Change: N118S

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000121213
Gene: ENSMUSG00000029761
AA Change: N334S

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

SMART Domains

Protein: ENSMUSP00000116247
Gene: ENSMUSG00000029761
AA Change: N171S

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

Predicted Effect

unknown
Transcript: ENSMUST00000149009
AA Change: N284S

SMART Domains

Protein: ENSMUSP00000138368
Gene: ENSMUSG00000029761
AA Change: N284S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,188,908 (GRCm39)	F850L	probably benign	Het
Adam1a	A	T	5: 121,657,411 (GRCm39)	D627E	probably damaging	Het
Add2	C	A	6: 86,081,459 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,491,785 (GRCm39)	N72S	probably benign	Het
Aqp6	A	G	15: 99,501,655 (GRCm39)	T238A	possibly damaging	Het
Arhgef38	G	T	3: 132,912,706 (GRCm39)	T111K		Het
Atg10	A	G	13: 91,189,032 (GRCm39)	Y93H	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Caps2	A	T	10: 112,031,829 (GRCm39)	I322F	possibly damaging	Het
Cbx3	T	A	6: 51,455,533 (GRCm39)	S95T	probably benign	Het
Ccdc24	T	C	4: 117,727,102 (GRCm39)	T83A	unknown	Het
Cntn1	T	C	15: 92,140,864 (GRCm39)	Y197H	probably damaging	Het
Cpd	A	G	11: 76,675,275 (GRCm39)	I1282T	possibly damaging	Het
Crat	A	T	2: 30,295,052 (GRCm39)	S454R	probably damaging	Het
D2hgdh	G	A	1: 93,754,338 (GRCm39)	V126I	probably benign	Het
Dcst1	A	G	3: 89,271,558 (GRCm39)	V75A	probably benign	Het
Dnm1l	T	C	16: 16,176,668 (GRCm39)	D21G	probably benign	Het
Evc2	A	G	5: 37,504,823 (GRCm39)	N74D	probably benign	Het
Gm19965	A	T	1: 116,748,942 (GRCm39)	M208L		Het
Gprc6a	T	G	10: 51,497,182 (GRCm39)	T454P	possibly damaging	Het
Gprin1	C	T	13: 54,886,778 (GRCm39)	V499M	probably benign	Het
Gtf3c5	A	G	2: 28,463,577 (GRCm39)	Y194H	probably damaging	Het
Hcn4	T	C	9: 58,767,880 (GRCm39)	V1147A	possibly damaging	Het
Ighv1-82	A	C	12: 115,916,342 (GRCm39)	V56G	probably damaging	Het
Ins2	T	C	7: 142,232,505 (GRCm39)	D93G	possibly damaging	Het
Itgb8	A	G	12: 119,130,535 (GRCm39)	S658P	probably benign	Het
Kcnmb1	T	C	11: 33,920,263 (GRCm39)	F159L	probably benign	Het
Klf1	C	T	8: 85,629,954 (GRCm39)	L260F	probably benign	Het
Larp4	T	A	15: 99,888,205 (GRCm39)	S140T	possibly damaging	Het
Maneal	C	A	4: 124,755,542 (GRCm39)	R140L	probably benign	Het
Mfsd11	T	A	11: 116,750,323 (GRCm39)	V114D		Het
Muc4	A	G	16: 32,752,617 (GRCm38)	T832A	probably benign	Het
Myh11	T	G	16: 14,050,439 (GRCm39)	I509L		Het
Myh13	A	T	11: 67,252,149 (GRCm39)	E1419V	probably damaging	Het
Myh7b	A	G	2: 155,474,439 (GRCm39)	E1718G	probably damaging	Het
Myo9b	T	A	8: 71,807,871 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,367,939 (GRCm39)	L656Q	probably benign	Het
Nova1	A	G	12: 46,746,813 (GRCm39)	I488T	probably damaging	Het
Or51r1	A	T	7: 102,228,500 (GRCm39)	E266V	probably damaging	Het
Or5b113	A	T	19: 13,342,222 (GRCm39)	T77S	possibly damaging	Het
Or5b21	A	G	19: 12,839,976 (GRCm39)	Y279C	probably damaging	Het
Or5d18	A	G	2: 87,864,697 (GRCm39)	V262A	probably damaging	Het
Or6c35	A	G	10: 129,169,623 (GRCm39)	N291S	probably damaging	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Pax6	C	T	2: 105,523,097 (GRCm39)	S325L	probably benign	Het
Phldb1	T	C	9: 44,619,740 (GRCm39)	D142G	probably null	Het
Phldb3	T	G	7: 24,324,048 (GRCm39)		probably benign	Het
Pikfyve	G	T	1: 65,235,898 (GRCm39)	R190L	probably damaging	Het
Plagl2	A	T	2: 153,074,540 (GRCm39)	H120Q	probably damaging	Het
Pou2f1	A	T	1: 165,703,640 (GRCm39)		probably benign	Het
Pramel58	A	G	5: 94,831,836 (GRCm39)	Y281C	possibly damaging	Het
Prpf6	A	G	2: 181,250,001 (GRCm39)	R54G	possibly damaging	Het
Prss33	T	C	17: 24,052,966 (GRCm39)	E236G	probably benign	Het
Ptpru	T	C	4: 131,522,278 (GRCm39)	Y709C	probably benign	Het
Rcc1l	A	G	5: 134,197,057 (GRCm39)	V212A	probably benign	Het
Rtl1	G	A	12: 109,560,007 (GRCm39)	L611F		Het
Scp2	A	G	4: 107,931,603 (GRCm39)	I344T	possibly damaging	Het
Serpinb2	A	T	1: 107,449,890 (GRCm39)	D101V	possibly damaging	Het
Slc13a1	T	C	6: 24,097,662 (GRCm39)	T422A	probably damaging	Het
Slc38a10	G	T	11: 120,007,762 (GRCm39)	T406K	probably benign	Het
Smad4	T	C	18: 73,782,806 (GRCm39)	E376G	probably damaging	Het
Smarcb1	T	C	10: 75,750,916 (GRCm39)	E115G	probably benign	Het
Spata31h1	A	T	10: 82,120,928 (GRCm39)	H4027Q	probably damaging	Het
Taf5	G	A	19: 47,063,370 (GRCm39)	V307I	probably damaging	Het
Tnc	T	C	4: 63,938,686 (GRCm39)	N51S	possibly damaging	Het
Trp53inp2	G	T	2: 155,228,558 (GRCm39)	R171L	possibly damaging	Het
Ttc13	A	T	8: 125,402,021 (GRCm39)	D579E	probably benign	Het
Ttn	A	T	2: 76,775,896 (GRCm39)	N1761K	unknown	Het
Ttpa	C	T	4: 20,008,401 (GRCm39)		probably benign	Het
Ugt3a1	G	A	15: 9,362,051 (GRCm39)	V276I	probably benign	Het
Usp4	T	A	9: 108,244,011 (GRCm39)	H296Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn2r81	A	G	10: 79,103,905 (GRCm39)	D176G		Het
Wdr1	A	T	5: 38,687,468 (GRCm39)		probably benign	Het
Zfp488	T	G	14: 33,692,695 (GRCm39)	Q156P	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
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
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
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'- TTAGCACCTGCAGGCATAC -3'
(R):5'- GCCATGCACTTAAGGACGTG -3'

Sequencing Primer
(F):5'- TGCAGGCATACACCCGC -3'
(R):5'- CACTTAAGGACGTGGGGGC -3'

Posted On

2022-01-20