Mutagenetix > Incidental Mutation

Incidental Mutation 'R6577:Cracd'

523536

Institutional Source

Beutler Lab

Gene Symbol

Cracd

Ensembl Gene

ENSMUSG00000036377

Gene Name

capping protein inhibiting regulator of actin

Synonyms

C530008M17Rik

MMRRC Submission

044701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6577 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

76804359-77021401 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 77013947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116870 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000151567] [ENSMUST00000163347]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: K1151N

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: K1151N

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121160
AA Change: K1154N

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: K1154N

Domain	Start	End	E-Value	Type
Pfam:DUF4592	45	172	1.8e-41	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	1034	1047	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149216

Predicted Effect

probably benign
Transcript: ENSMUST00000151567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152373

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: K1151N

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: K1151N

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Api5	T	C	2: 94,252,726 (GRCm39)	Y348C	probably benign	Het
Ark2n	T	C	18: 77,740,855 (GRCm39)	T285A	probably benign	Het
Arl14	A	G	3: 69,130,405 (GRCm39)	E184G	probably benign	Het
Asap3	T	C	4: 135,965,541 (GRCm39)		probably null	Het
Atp11b	T	A	3: 35,893,311 (GRCm39)	V36E	probably damaging	Het
Atp13a4	C	T	16: 29,298,659 (GRCm39)	S100N	probably benign	Het
Cd27	T	C	6: 125,213,756 (GRCm39)	T34A	probably benign	Het
Clec10a	T	C	11: 70,061,436 (GRCm39)	S274P	probably benign	Het
Cntnap2	C	T	6: 46,147,206 (GRCm39)	T484I	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Def8	T	C	8: 124,183,449 (GRCm39)	S304P	probably benign	Het
Dgkd	G	A	1: 87,867,962 (GRCm39)	V299M	probably damaging	Het
Ephb2	T	C	4: 136,384,861 (GRCm39)	D850G	probably damaging	Het
Gjd3	T	C	11: 102,691,130 (GRCm39)	N291S	possibly damaging	Het
Hc	T	C	2: 34,922,138 (GRCm39)	I563V	probably benign	Het
Hells	C	T	19: 38,919,909 (GRCm39)	Q20*	probably null	Het
Hid1	G	C	11: 115,245,462 (GRCm39)	P448A	possibly damaging	Het
Igkv8-24	C	T	6: 70,193,947 (GRCm39)	R87H	possibly damaging	Het
Irf6	A	G	1: 192,851,662 (GRCm39)	S418G	probably damaging	Het
Kcnv2	T	A	19: 27,301,420 (GRCm39)	C424S	possibly damaging	Het
Lmln	T	A	16: 32,927,370 (GRCm39)		probably null	Het
Myo1a	A	T	10: 127,551,189 (GRCm39)	I678F	possibly damaging	Het
Nup98	A	C	7: 101,778,053 (GRCm39)		probably null	Het
Papolg	GGACTTGGGATACTTACGCTTTG	GG	11: 23,829,857 (GRCm39)		probably benign	Het
Ppfibp1	T	A	6: 146,901,153 (GRCm39)		probably null	Het
Sardh	T	C	2: 27,108,867 (GRCm39)	T623A	possibly damaging	Het
Scml4	A	G	10: 42,823,107 (GRCm39)	N251D	probably damaging	Het
Skap1	T	C	11: 96,416,870 (GRCm39)	Y52H	probably damaging	Het
Srp68	G	A	11: 116,156,290 (GRCm39)	R113W	probably damaging	Het
Srsf12	T	C	4: 33,209,196 (GRCm39)		probably benign	Het
Stat5b	A	G	11: 100,688,526 (GRCm39)	M312T	probably benign	Het
Tma7	T	C	9: 108,911,262 (GRCm39)		probably benign	Het
Tmem120b	T	G	5: 123,254,710 (GRCm39)	F304V	probably damaging	Het
Tns3	G	A	11: 8,499,057 (GRCm39)	L9F	probably damaging	Het
Tns3	G	T	11: 8,499,058 (GRCm39)	D8E	probably damaging	Het
Tsc2	C	T	17: 24,829,473 (GRCm39)	A765T	probably damaging	Het
Tut7	C	T	13: 59,955,975 (GRCm39)	C45Y	probably damaging	Het
Uba1y	A	G	Y: 825,465 (GRCm39)	I276V	probably benign	Homo
Upb1	T	G	10: 75,248,723 (GRCm39)	L81R	probably damaging	Het
Uros	C	A	7: 133,302,569 (GRCm39)	C73F	probably damaging	Het
Zfp820	T	C	17: 22,038,384 (GRCm39)	I315V	probably benign	Het

Other mutations in Cracd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Cracd	APN	5	77,013,903 (GRCm39)	unclassified	probably benign
IGL00660:Cracd	APN	5	77,002,780 (GRCm39)	critical splice acceptor site	probably null
IGL00924:Cracd	APN	5	77,006,833 (GRCm39)	missense	unknown
IGL01025:Cracd	APN	5	76,805,921 (GRCm39)	intron	probably benign
IGL01122:Cracd	APN	5	77,018,522 (GRCm39)	makesense	probably null
IGL01393:Cracd	APN	5	77,006,818 (GRCm39)	missense	unknown
IGL01526:Cracd	APN	5	77,005,478 (GRCm39)	missense	unknown
IGL01986:Cracd	APN	5	77,006,457 (GRCm39)	missense	unknown
IGL02009:Cracd	APN	5	76,996,817 (GRCm39)	missense	possibly damaging	0.61
IGL02724:Cracd	APN	5	77,006,306 (GRCm39)	missense	unknown
IGL02869:Cracd	APN	5	77,006,890 (GRCm39)	missense	unknown
IGL03030:Cracd	APN	5	77,005,463 (GRCm39)	missense	unknown
IGL03150:Cracd	APN	5	77,015,097 (GRCm39)	missense	probably damaging	0.99
LCD18:Cracd	UTSW	5	76,806,589 (GRCm39)	intron	probably benign
R0975:Cracd	UTSW	5	77,004,165 (GRCm39)	splice site	probably benign
R1329:Cracd	UTSW	5	76,805,779 (GRCm39)	intron	probably benign
R1439:Cracd	UTSW	5	76,988,757 (GRCm39)	missense	probably damaging	0.99
R1750:Cracd	UTSW	5	77,005,522 (GRCm39)	missense	unknown
R1773:Cracd	UTSW	5	77,015,052 (GRCm39)	missense	possibly damaging	0.54
R1885:Cracd	UTSW	5	77,004,589 (GRCm39)	missense	unknown
R1924:Cracd	UTSW	5	77,006,470 (GRCm39)	missense	unknown
R2483:Cracd	UTSW	5	77,004,256 (GRCm39)	missense	probably damaging	0.98
R3840:Cracd	UTSW	5	77,006,858 (GRCm39)	missense	unknown
R3841:Cracd	UTSW	5	77,006,858 (GRCm39)	missense	unknown
R3874:Cracd	UTSW	5	76,988,739 (GRCm39)	missense	probably damaging	1.00
R3883:Cracd	UTSW	5	77,004,421 (GRCm39)	missense	unknown
R4033:Cracd	UTSW	5	77,006,312 (GRCm39)	missense	unknown
R4401:Cracd	UTSW	5	76,996,763 (GRCm39)	missense	probably damaging	0.98
R4749:Cracd	UTSW	5	77,006,681 (GRCm39)	missense	unknown
R4884:Cracd	UTSW	5	76,996,682 (GRCm39)	missense	probably damaging	1.00
R4980:Cracd	UTSW	5	77,005,421 (GRCm39)	missense	unknown
R5010:Cracd	UTSW	5	76,805,681 (GRCm39)	utr 5 prime	probably benign
R5086:Cracd	UTSW	5	77,004,971 (GRCm39)	missense	unknown
R5468:Cracd	UTSW	5	76,988,610 (GRCm39)	intron	probably benign
R5786:Cracd	UTSW	5	77,014,043 (GRCm39)	splice site	probably null
R5813:Cracd	UTSW	5	77,006,275 (GRCm39)	missense	unknown
R5866:Cracd	UTSW	5	77,005,384 (GRCm39)	missense	unknown
R5928:Cracd	UTSW	5	76,989,581 (GRCm39)	intron	probably benign
R6273:Cracd	UTSW	5	77,005,568 (GRCm39)	missense	unknown
R6838:Cracd	UTSW	5	77,006,056 (GRCm39)	missense	unknown
R6849:Cracd	UTSW	5	77,005,004 (GRCm39)	missense	unknown
R6849:Cracd	UTSW	5	77,004,857 (GRCm39)	missense	unknown
R6914:Cracd	UTSW	5	77,004,854 (GRCm39)	missense	unknown
R7017:Cracd	UTSW	5	77,004,795 (GRCm39)	small deletion	probably benign
R7094:Cracd	UTSW	5	77,006,879 (GRCm39)	missense	unknown
R7367:Cracd	UTSW	5	77,004,449 (GRCm39)	missense	unknown
R7394:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7436:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7443:Cracd	UTSW	5	77,004,485 (GRCm39)	missense	unknown
R7500:Cracd	UTSW	5	76,805,905 (GRCm39)	missense	unknown
R7566:Cracd	UTSW	5	77,014,122 (GRCm39)	splice site	probably null
R7633:Cracd	UTSW	5	77,005,367 (GRCm39)	missense	unknown
R7728:Cracd	UTSW	5	77,005,316 (GRCm39)	missense	unknown
R7930:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R7985:Cracd	UTSW	5	76,805,897 (GRCm39)	missense	unknown
R8154:Cracd	UTSW	5	76,989,644 (GRCm39)	missense	unknown
R8463:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R8547:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R8805:Cracd	UTSW	5	77,006,489 (GRCm39)	missense	unknown
R8819:Cracd	UTSW	5	77,004,793 (GRCm39)	small deletion	probably benign
R8888:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R9256:Cracd	UTSW	5	76,988,757 (GRCm39)	missense	unknown
R9358:Cracd	UTSW	5	77,002,836 (GRCm39)	missense	probably damaging	1.00
R9417:Cracd	UTSW	5	77,004,801 (GRCm39)	small deletion	probably benign
R9618:Cracd	UTSW	5	77,004,617 (GRCm39)	missense	unknown
R9628:Cracd	UTSW	5	77,004,923 (GRCm39)	missense	unknown
R9639:Cracd	UTSW	5	77,005,997 (GRCm39)	missense	unknown
R9762:Cracd	UTSW	5	77,006,555 (GRCm39)	missense	unknown
R9785:Cracd	UTSW	5	77,015,028 (GRCm39)	missense	unknown
Z1176:Cracd	UTSW	5	77,005,093 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACGGACTTCAGGAGCTGATG -3'
(R):5'- TGCCTCCCTGACATAAAGTTTG -3'

Sequencing Primer
(F):5'- GATGAGCTAGTCGTCTGTTCCTCAC -3'
(R):5'- CTCCCTGACATAAAGTTTGTCAGTG -3'

Posted On

2018-06-22