Mutagenetix > Incidental Mutation

Incidental Mutation 'R7332:Cdadc1'

569320

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

045425-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59796837-59835408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59813213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 398 (I398T)

Ref Sequence

ENSEMBL: ENSMUSP00000128022 (fasta)

Gene Model

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

AlphaFold

Q8BMD5

Predicted Effect

probably benign
Transcript: ENSMUST00000022555
AA Change: I398T

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: I398T

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

possibly damaging
Transcript: ENSMUST00000056997
AA Change: I398T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: I398T

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

possibly damaging
Transcript: ENSMUST00000167100
AA Change: I398T

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: I398T

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

possibly damaging
Transcript: ENSMUST00000171683
AA Change: I398T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: I398T

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

probably benign
Transcript: ENSMUST00000225595

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225839
AA Change: I398T

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

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

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,906,553 (GRCm39)	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,388,198 (GRCm39)	S21A	probably benign	Het
Cacna1e	T	C	1: 154,601,547 (GRCm39)	Y40C	possibly damaging	Het
Cfap44	T	A	16: 44,250,191 (GRCm39)	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,141,243 (GRCm39)	L104Q	probably null	Het
Clk1	G	A	1: 58,451,853 (GRCm39)	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,528,061 (GRCm39)	D426V	probably damaging	Het
Cmya5	A	G	13: 93,229,061 (GRCm39)	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,419,325 (GRCm39)	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,199,356 (GRCm39)	K5R	probably benign	Het
Csmd2	A	G	4: 128,313,360 (GRCm39)	T1346A		Het
Csrp1	G	T	1: 135,667,149 (GRCm39)	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,929,817 (GRCm39)	I184T	probably damaging	Het
Egfl7	C	A	2: 26,480,725 (GRCm39)	R128S	probably benign	Het
Fggy	A	T	4: 95,511,719 (GRCm39)	N157I	probably damaging	Het
Gldc	A	T	19: 30,093,926 (GRCm39)	L697Q	probably damaging	Het
Gm4952	T	A	19: 12,604,373 (GRCm39)	Y262N	probably damaging	Het
Gsap	T	A	5: 21,495,119 (GRCm39)	M821K	probably benign	Het
Hps1	T	C	19: 42,766,351 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,280,038 (GRCm39)		probably benign	Het
Igfbp7	G	A	5: 77,499,803 (GRCm39)	T220I	probably damaging	Het
Ints3	T	C	3: 90,322,819 (GRCm39)	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,716,292 (GRCm39)	F199S	possibly damaging	Het
Kirrel1	T	C	3: 86,995,705 (GRCm39)	I410V	probably benign	Het
Llgl2	T	C	11: 115,739,125 (GRCm39)	V332A	probably damaging	Het
Lrrc27	A	G	7: 138,822,661 (GRCm39)	I517M	probably damaging	Het
Mas1	T	C	17: 13,061,106 (GRCm39)	T106A	probably benign	Het
Mast4	T	A	13: 102,887,932 (GRCm39)	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 93,576,780 (GRCm39)	D601G	probably damaging	Het
Mycbp2	T	A	14: 103,434,793 (GRCm39)	I2217F	probably damaging	Het
Mycbp2	A	G	14: 103,393,889 (GRCm39)	S2891P	probably damaging	Het
Naip6	A	G	13: 100,437,209 (GRCm39)	V438A	possibly damaging	Het
Or4g17	A	G	2: 111,209,738 (GRCm39)	H131R	not run	Het
Pdf	T	C	8: 107,775,173 (GRCm39)	R20G	probably benign	Het
Pfdn2	T	C	1: 171,184,162 (GRCm39)	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,841,981 (GRCm39)	N795K		Het
Ppip5k1	A	T	2: 121,142,450 (GRCm39)	V1333D	probably damaging	Het
Pramel51	T	C	12: 88,143,187 (GRCm39)	T339A	possibly damaging	Het
Prss44	A	T	9: 110,644,530 (GRCm39)	I213F	probably damaging	Het
Rbm47	A	G	5: 66,183,557 (GRCm39)	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,108,096 (GRCm39)	T253S	probably benign	Het
Rdh1	A	G	10: 127,595,754 (GRCm39)		probably benign	Het
Scn7a	C	T	2: 66,522,898 (GRCm39)	W935*	probably null	Het
Sec24b	T	C	3: 129,835,042 (GRCm39)	N52S	probably benign	Het
Serpinb5	A	T	1: 106,800,091 (GRCm39)	I94L	probably benign	Het
Setx	T	C	2: 29,036,638 (GRCm39)	V1041A	probably benign	Het
Slco3a1	G	A	7: 73,968,232 (GRCm39)	A496V	possibly damaging	Het
Spag5	T	A	11: 78,204,205 (GRCm39)	L486*	probably null	Het
Spink5	T	C	18: 44,115,317 (GRCm39)	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,759,173 (GRCm39)	Y65C	probably benign	Het
Ssh2	T	A	11: 77,344,349 (GRCm39)	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,260,172 (GRCm39)	S265L	probably damaging	Het
Syne2	T	A	12: 76,014,529 (GRCm39)		probably null	Het
Tctn1	A	T	5: 122,399,547 (GRCm39)	D92E	probably damaging	Het
Tiam2	A	G	17: 3,503,644 (GRCm39)	I940M	probably damaging	Het
Tmeff2	T	C	1: 51,018,599 (GRCm39)	W194R	unknown	Het
Tomm20	T	C	8: 127,663,903 (GRCm39)	T94A	probably benign	Het
Ucn2	A	G	9: 108,815,532 (GRCm39)	N98S	probably benign	Het
V1rd19	A	T	7: 23,702,743 (GRCm39)	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,367,503 (GRCm39)	L17P	probably benign	Het
Vmn2r61	A	G	7: 41,909,534 (GRCm39)	T20A	probably benign	Het
Wdr59	G	A	8: 112,220,986 (GRCm39)	T182I		Het
Zfp40	A	T	17: 23,395,155 (GRCm39)	C477*	probably null	Het
Zfp68	A	G	5: 138,604,830 (GRCm39)	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,757,755 (GRCm39)		probably null	Het
Zfp846	T	G	9: 20,505,521 (GRCm39)	N460K	probably benign	Het
Zim1	T	C	7: 6,680,352 (GRCm39)	Y437C	probably damaging	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	59,823,541 (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
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'- CATACATAGGCTCCAGTCCAGG -3'
(R):5'- GGAGGGAGCCTTCTTTACATG -3'

Sequencing Primer
(F):5'- CAGGAGCAGGACCATGCTTTATC -3'
(R):5'- AGCCTTCTTTACATGAGGTATGAG -3'

Posted On

2019-09-13