Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Cdca7l'

274258

Institutional Source

Beutler Lab

Gene Symbol

Cdca7l

Ensembl Gene

ENSMUSG00000021175

Gene Name

cell division cycle associated 7 like

Synonyms

JPO2

MMRRC Submission

040770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117807209-117842441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117835948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 95 (V95I)

Ref Sequence

ENSEMBL: ENSMUSP00000135053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021592] [ENSMUST00000176735] [ENSMUST00000177339]

AlphaFold

Q922M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021592
AA Change: V141I

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

SMART Domains

Protein: ENSMUSP00000021592
Gene: ENSMUSG00000021175
AA Change: V141I

Domain	Start	End	E-Value	Type
low complexity region	115	125	N/A	INTRINSIC
low complexity region	127	136	N/A	INTRINSIC
low complexity region	233	247	N/A	INTRINSIC
Pfam:zf-4CXXC_R1	333	431	4.3e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176499

Predicted Effect

probably damaging
Transcript: ENSMUST00000176735
AA Change: V140I

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

SMART Domains

Protein: ENSMUSP00000135142
Gene: ENSMUSG00000021175
AA Change: V140I

Domain	Start	End	E-Value	Type
low complexity region	114	124	N/A	INTRINSIC
low complexity region	126	135	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177339
AA Change: V95I

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

SMART Domains

Protein: ENSMUSP00000135053
Gene: ENSMUSG00000021175
AA Change: V95I

Domain	Start	End	E-Value	Type
low complexity region	69	79	N/A	INTRINSIC
low complexity region	81	90	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
Pfam:zf-4CXXC_R1	286	308	1.8e-8	PFAM

Meta Mutation Damage Score

0.3360

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Ces1e	A	G	8: 93,928,467 (GRCm39)		probably null	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dedd	A	G	1: 171,166,469 (GRCm39)	E135G	probably benign	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Sfrp5	C	T	19: 42,187,230 (GRCm39)	R280H	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het

Other mutations in Cdca7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02378:Cdca7l	APN	12	117,835,862 (GRCm39)	missense	possibly damaging	0.47
R1636:Cdca7l	UTSW	12	117,840,663 (GRCm39)	missense	probably damaging	1.00
R2237:Cdca7l	UTSW	12	117,837,761 (GRCm39)	missense	probably damaging	0.99
R4541:Cdca7l	UTSW	12	117,836,098 (GRCm39)	missense	probably damaging	0.98
R4910:Cdca7l	UTSW	12	117,837,520 (GRCm39)	nonsense	probably null
R5232:Cdca7l	UTSW	12	117,833,820 (GRCm39)	missense	probably damaging	1.00
R5342:Cdca7l	UTSW	12	117,840,768 (GRCm39)	missense	probably damaging	1.00
R6144:Cdca7l	UTSW	12	117,837,446 (GRCm39)	splice site	probably null
R7895:Cdca7l	UTSW	12	117,837,467 (GRCm39)	missense	probably damaging	1.00
R8112:Cdca7l	UTSW	12	117,840,779 (GRCm39)	critical splice donor site	probably null
R8773:Cdca7l	UTSW	12	117,839,346 (GRCm39)	missense	possibly damaging	0.69
R8776:Cdca7l	UTSW	12	117,836,098 (GRCm39)	missense	probably damaging	0.98
R8776-TAIL:Cdca7l	UTSW	12	117,836,098 (GRCm39)	missense	probably damaging	0.98
R8983:Cdca7l	UTSW	12	117,828,902 (GRCm39)	intron	probably benign
R9063:Cdca7l	UTSW	12	117,838,536 (GRCm39)	missense	probably damaging	1.00
Z1088:Cdca7l	UTSW	12	117,836,146 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- ACAGTTTTAAACACAGTTGCCTGG -3'
(R):5'- GCCCTTTTCAGCAGAGCATC -3'

Sequencing Primer
(F):5'- AACACAGTTGCCTGGTCTAG -3'
(R):5'- AGCAGAGCATCCGAATTCTCTTG -3'

Posted On

2015-04-02