Mutagenetix > Incidental Mutation

Incidental Mutation 'R1540:Cdadc1'

171692

Institutional Source

Beutler Lab

Gene Symbol

Cdadc1

Ensembl Gene

ENSMUSG00000021982

Gene Name

cytidine and dCMP deaminase domain containing 1

Synonyms

2310010M10Rik, NYD-SP15

MMRRC Submission

039579-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R1540 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59796837-59835408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59823541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 317 (Q317L)

Ref Sequence

ENSEMBL: ENSMUSP00000128064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022555] [ENSMUST00000056997] [ENSMUST00000167100] [ENSMUST00000171683] [ENSMUST00000225595] [ENSMUST00000225839]

AlphaFold

Q8BMD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022555
AA Change: Q317L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: Q317L

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	73	153	9.2e-8	PFAM
Pfam:dCMP_cyt_deam_1	317	446	4.2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056997
AA Change: Q317L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: Q317L

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	73	153	9.8e-8	PFAM
Pfam:dCMP_cyt_deam_1	317	446	4.6e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167100
AA Change: Q317L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: Q317L

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	74	153	4.9e-9	PFAM
Pfam:dCMP_cyt_deam_1	317	446	1.1e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171683
AA Change: Q317L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: Q317L

Domain	Start	End	E-Value	Type
Pfam:dCMP_cyt_deam_1	74	153	1.4e-8	PFAM
Pfam:dCMP_cyt_deam_1	317	446	3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225103

Predicted Effect

probably benign
Transcript: ENSMUST00000225595

Predicted Effect

probably damaging
Transcript: ENSMUST00000225839
AA Change: Q317L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2716

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,574,384 (GRCm39)	C767R	probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap3d1	A	T	10: 80,551,775 (GRCm39)	I644N	probably benign	Het
Asb16	A	G	11: 102,163,402 (GRCm39)	I131V	probably benign	Het
Atp6v0a2	C	A	5: 124,784,638 (GRCm39)	A307D	probably damaging	Het
C1qtnf1	C	T	11: 118,338,749 (GRCm39)	H140Y	probably benign	Het
Cacna1g	T	A	11: 94,347,865 (GRCm39)	D741V	probably damaging	Het
Caprin2	T	A	6: 148,777,969 (GRCm39)	T211S	probably benign	Het
Carmil1	T	C	13: 24,283,037 (GRCm39)	E89G	possibly damaging	Het
Casz1	T	A	4: 149,027,357 (GRCm39)		probably benign	Het
Catsperb	G	A	12: 101,378,589 (GRCm39)	R30Q	probably benign	Het
Ccdc102a	A	T	8: 95,634,341 (GRCm39)		probably null	Het
Ccdc110	G	T	8: 46,395,362 (GRCm39)	E418*	probably null	Het
Ccdc90b	C	T	7: 92,231,024 (GRCm39)	A210V	probably benign	Het
Cep170	C	A	1: 176,567,498 (GRCm39)	W1396L	probably damaging	Het
Col4a6	T	C	X: 140,010,854 (GRCm39)	T129A	probably damaging	Het
Ctcfl	C	T	2: 172,954,141 (GRCm39)	D319N	probably benign	Het
Dclk1	T	C	3: 55,385,244 (GRCm39)	S45P	probably damaging	Het
Efcab3	T	C	11: 104,999,726 (GRCm39)	I5581T	probably benign	Het
Evi2	T	C	11: 79,406,412 (GRCm39)	I388V	probably benign	Het
Fbxl5	A	T	5: 43,915,978 (GRCm39)	V435E	possibly damaging	Het
Fig4	A	T	10: 41,064,582 (GRCm39)	M887K	possibly damaging	Het
Glt8d1	G	A	14: 30,733,549 (GRCm39)	V345I	probably benign	Het
Gm5709	T	C	3: 59,526,073 (GRCm39)		noncoding transcript	Het
Hsp90b1	A	G	10: 86,529,906 (GRCm39)	F264L	probably damaging	Het
Id3	A	G	4: 135,871,250 (GRCm39)	S21G	possibly damaging	Het
Ighe	T	A	12: 113,235,066 (GRCm39)	N365Y	unknown	Het
Il17rd	T	G	14: 26,821,915 (GRCm39)	M403R	probably damaging	Het
Ints10	A	G	8: 69,249,365 (GRCm39)		probably benign	Het
Kcnc4	T	A	3: 107,352,743 (GRCm39)		probably null	Het
Kctd19	A	G	8: 106,114,511 (GRCm39)	S517P	probably damaging	Het
Lama5	A	G	2: 179,821,944 (GRCm39)	F2964L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lrrc8e	A	G	8: 4,284,990 (GRCm39)	K405R	probably benign	Het
Lyst	T	A	13: 13,809,686 (GRCm39)	M452K	possibly damaging	Het
Mroh7	A	G	4: 106,560,273 (GRCm39)	L677P	probably benign	Het
Mrps27	T	A	13: 99,541,558 (GRCm39)	F221I	probably benign	Het
Nhlrc1	C	T	13: 47,167,820 (GRCm39)	V146M	probably damaging	Het
Nlrp9b	T	A	7: 19,782,772 (GRCm39)	C895*	probably null	Het
Nod1	T	C	6: 54,920,960 (GRCm39)	T453A	probably benign	Het
Nodal	T	C	10: 61,258,764 (GRCm39)	V67A	probably damaging	Het
Ntsr1	T	C	2: 180,184,440 (GRCm39)	L381P	probably damaging	Het
Or13c25	T	C	4: 52,910,996 (GRCm39)	D266G	probably benign	Het
Or2b2b	T	A	13: 21,858,700 (GRCm39)	Q138L	probably benign	Het
Or9e1	T	A	11: 58,732,477 (GRCm39)	M179K	probably benign	Het
P2ry14	T	A	3: 59,022,686 (GRCm39)	K267M	probably benign	Het
Pcdh1	T	C	18: 38,322,779 (GRCm39)	N1018S	probably benign	Het
Pkn3	G	A	2: 29,974,703 (GRCm39)	V406I	probably damaging	Het
Prkcb	C	T	7: 122,226,916 (GRCm39)	T634I	probably damaging	Het
Psme2b	T	A	11: 48,836,209 (GRCm39)		probably null	Het
Ptgfrn	A	G	3: 100,967,970 (GRCm39)	I541T	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgapb	T	C	2: 158,307,746 (GRCm39)	V684A	probably benign	Het
Rbbp5	C	T	1: 132,422,020 (GRCm39)	R307*	probably null	Het
Rcor1	T	A	12: 111,070,037 (GRCm39)		probably benign	Het
Rlbp1	C	T	7: 79,029,808 (GRCm39)	A142T	probably damaging	Het
Rps6ka2	A	G	17: 7,560,305 (GRCm39)	E581G	probably null	Het
Sars1	A	T	3: 108,340,461 (GRCm39)	V155E	probably benign	Het
Sec31a	G	C	5: 100,523,178 (GRCm39)	P569A	probably damaging	Het
Selenof	A	T	3: 144,300,685 (GRCm39)	K111*	probably null	Het
Serpinb7	C	T	1: 107,355,998 (GRCm39)	A7V	possibly damaging	Het
Smc4	T	A	3: 68,924,105 (GRCm39)	Y298N	probably damaging	Het
Snrpa1	T	A	7: 65,720,409 (GRCm39)	I204N	probably damaging	Het
Spry4	T	G	18: 38,734,740 (GRCm39)		probably benign	Het
Tcea2	A	G	2: 181,328,751 (GRCm39)	N261S	possibly damaging	Het
Tmem59l	A	G	8: 70,937,804 (GRCm39)	F192S	probably benign	Het
Tnr	T	A	1: 159,677,675 (GRCm39)	I20N	probably damaging	Het
Ttll5	C	T	12: 85,938,982 (GRCm39)	Q427*	probably null	Het
Vps45	C	T	3: 95,955,658 (GRCm39)	A111T	probably damaging	Het
Zfp395	T	C	14: 65,630,523 (GRCm39)	S358P	probably benign	Het
Zfp438	A	G	18: 5,210,740 (GRCm39)	V766A	probably benign	Het

Other mutations in Cdadc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Cdadc1	APN	14	59,818,818 (GRCm39)	missense	probably damaging	1.00
IGL01897:Cdadc1	APN	14	59,829,986 (GRCm39)	critical splice acceptor site	probably null
IGL02648:Cdadc1	APN	14	59,823,812 (GRCm39)	missense	probably damaging	1.00
IGL02720:Cdadc1	APN	14	59,823,496 (GRCm39)	missense	probably damaging	1.00
R0254:Cdadc1	UTSW	14	59,813,356 (GRCm39)	splice site	probably benign
R0470:Cdadc1	UTSW	14	59,811,290 (GRCm39)	splice site	probably benign
R0554:Cdadc1	UTSW	14	59,823,901 (GRCm39)	missense	probably damaging	1.00
R1462:Cdadc1	UTSW	14	59,813,307 (GRCm39)	missense	probably damaging	1.00
R1462:Cdadc1	UTSW	14	59,813,307 (GRCm39)	missense	probably damaging	1.00
R1540:Cdadc1	UTSW	14	59,823,532 (GRCm39)	missense	probably damaging	1.00
R1649:Cdadc1	UTSW	14	59,811,242 (GRCm39)	missense	probably damaging	1.00
R1900:Cdadc1	UTSW	14	59,823,981 (GRCm39)	missense	probably damaging	1.00
R1934:Cdadc1	UTSW	14	59,827,309 (GRCm39)	missense	possibly damaging	0.91
R1976:Cdadc1	UTSW	14	59,811,217 (GRCm39)	missense	probably damaging	1.00
R2061:Cdadc1	UTSW	14	59,818,783 (GRCm39)	missense	probably damaging	1.00
R2136:Cdadc1	UTSW	14	59,805,493 (GRCm39)	splice site	probably null
R2147:Cdadc1	UTSW	14	59,835,202 (GRCm39)	critical splice donor site	probably null
R2929:Cdadc1	UTSW	14	59,835,284 (GRCm39)	start codon destroyed	probably null	0.70
R2991:Cdadc1	UTSW	14	59,823,521 (GRCm39)	missense	possibly damaging	0.68
R4179:Cdadc1	UTSW	14	59,829,935 (GRCm39)	missense	probably benign	0.12
R4621:Cdadc1	UTSW	14	59,824,004 (GRCm39)	missense	probably benign	0.00
R4814:Cdadc1	UTSW	14	59,806,440 (GRCm39)	frame shift	probably null
R4816:Cdadc1	UTSW	14	59,806,440 (GRCm39)	frame shift	probably null
R4817:Cdadc1	UTSW	14	59,806,440 (GRCm39)	frame shift	probably null
R4872:Cdadc1	UTSW	14	59,801,973 (GRCm39)	missense	probably benign	0.04
R5448:Cdadc1	UTSW	14	59,811,275 (GRCm39)	missense	possibly damaging	0.94
R5642:Cdadc1	UTSW	14	59,827,372 (GRCm39)	missense	possibly damaging	0.95
R5732:Cdadc1	UTSW	14	59,834,360 (GRCm39)	missense	probably damaging	0.99
R6472:Cdadc1	UTSW	14	59,823,491 (GRCm39)	missense	probably damaging	0.99
R6501:Cdadc1	UTSW	14	59,823,898 (GRCm39)	missense	probably benign	0.00
R7332:Cdadc1	UTSW	14	59,813,213 (GRCm39)	missense	possibly damaging	0.63
R7763:Cdadc1	UTSW	14	59,811,283 (GRCm39)	missense	probably damaging	1.00
R8978:Cdadc1	UTSW	14	59,813,197 (GRCm39)	missense	probably damaging	1.00
X0064:Cdadc1	UTSW	14	59,813,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAACACAGGGTCTGGCTCACTTC -3'
(R):5'- ACTCCAGCCGTTGGTGTGTTAC -3'

Sequencing Primer
(F):5'- TCACTTCTTGACATTGTTGGAAC -3'
(R):5'- CAGTTTGTGGAGGAAACCTCTTAC -3'

Posted On

2014-04-13