Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Cald1'

573018

Institutional Source

Beutler Lab

Gene Symbol

Cald1

Ensembl Gene

ENSMUSG00000029761

Gene Name

caldesmon 1

Synonyms

C920027I18Rik, 4833423D12Rik

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7385 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34575433-34752404 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34663000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 21 (E21G)

Ref Sequence

ENSEMBL: ENSMUSP00000122926 (fasta)

Gene Model

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

AlphaFold

E9QA15

Predicted Effect

unknown
Transcript: ENSMUST00000079391
AA Change: E21G

SMART Domains

Protein: ENSMUSP00000078362
Gene: ENSMUSG00000029761
AA Change: E21G

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 damaging
Transcript: ENSMUST00000115026
AA Change: E21G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110678
Gene: ENSMUSG00000029761
AA Change: E21G

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: E21G

SMART Domains

Protein: ENSMUSP00000110679
Gene: ENSMUSG00000029761
AA Change: E21G

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 damaging
Transcript: ENSMUST00000142512
AA Change: E21G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122926
Gene: ENSMUSG00000029761
AA Change: E21G

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

Meta Mutation Damage Score

0.2457

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnni2	A	G	7: 141,996,915 (GRCm39)	N8S	probably benign	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	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
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'- GCAATTGACCACTGGTTGCC -3'
(R):5'- CAATGTTCAGCCTCCATAAATACG -3'

Sequencing Primer
(F):5'- AATTGACCACTGGTTGCCTTAGC -3'
(R):5'- CTGATCTCCATTTTTCTTGAAATGTG -3'

Posted On

2019-09-13