Mutagenetix > Incidental Mutation

Incidental Mutation 'R1976:Cdadc1'

221765

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

039989-MU

Accession Numbers

Essential gene?

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

Stock #

R1976 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59796837-59835408 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59811217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 431 (V431E)

Ref Sequence

ENSEMBL: ENSMUSP00000153357 (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: V431E

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

SMART Domains

Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: V431E

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: V431E

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

SMART Domains

Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: V431E

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: V431E

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

SMART Domains

Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: V431E

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: V431E

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

SMART Domains

Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: V431E

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

probably damaging
Transcript: ENSMUST00000225839
AA Change: V431E

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

Meta Mutation Damage Score

0.7572

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,347,815 (GRCm39)	V3556A	probably damaging	Het
Abcb5	T	C	12: 118,854,417 (GRCm39)	I833V	probably benign	Het
Adgrd1	A	T	5: 129,217,861 (GRCm39)	H432L	probably benign	Het
Alppl2	T	A	1: 87,016,463 (GRCm39)	I204F	probably damaging	Het
Ascc3	T	A	10: 50,525,262 (GRCm39)	F486I	probably damaging	Het
Bcl9l	T	A	9: 44,417,449 (GRCm39)	L429Q	possibly damaging	Het
Ccdc33	A	T	9: 58,024,445 (GRCm39)	Y227*	probably null	Het
Cd101	A	G	3: 100,915,377 (GRCm39)	V730A	probably damaging	Het
Dazap1	T	A	10: 80,110,454 (GRCm39)		probably null	Het
Dbpht2	T	A	12: 74,342,635 (GRCm39)		noncoding transcript	Het
Dennd4b	A	T	3: 90,180,362 (GRCm39)	T742S	probably damaging	Het
Dhtkd1	T	C	2: 5,907,202 (GRCm39)	E838G	possibly damaging	Het
Dync2h1	A	T	9: 7,129,045 (GRCm39)	D1823E	probably benign	Het
Enox1	T	A	14: 77,906,233 (GRCm39)	N556K	probably benign	Het
Fam227a	T	C	15: 79,510,477 (GRCm39)	I392M	possibly damaging	Het
Fnip2	A	T	3: 79,388,238 (GRCm39)	M831K	probably benign	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Garre1	A	C	7: 33,956,805 (GRCm39)	N353K	probably damaging	Het
Glis3	T	C	19: 28,240,077 (GRCm39)	936	probably benign	Het
Gm4953	T	A	1: 158,995,923 (GRCm39)		noncoding transcript	Het
Gsr	T	G	8: 34,170,288 (GRCm39)		probably null	Het
Habp4	G	T	13: 64,332,420 (GRCm39)	V344F	probably benign	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Helb	T	C	10: 119,930,168 (GRCm39)	D737G	possibly damaging	Het
Hltf	A	G	3: 20,160,610 (GRCm39)	D759G	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Itsn2	A	G	12: 4,722,733 (GRCm39)		probably benign	Het
Kank2	A	T	9: 21,705,857 (GRCm39)	V387E	probably damaging	Het
Lefty1	T	C	1: 180,765,389 (GRCm39)	V319A	probably benign	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Lpcat2b	A	T	5: 107,581,716 (GRCm39)	K348N	possibly damaging	Het
Lsamp	T	C	16: 41,709,430 (GRCm39)	V103A	probably damaging	Het
Ltbp4	A	T	7: 27,026,195 (GRCm39)	C538S	probably damaging	Het
Micu1	T	C	10: 59,604,035 (GRCm39)	S174P	probably damaging	Het
Mta1	A	G	12: 113,099,926 (GRCm39)	N607S	probably damaging	Het
Muc5b	C	T	7: 141,416,891 (GRCm39)	S3279L	probably benign	Het
Naalad2	T	C	9: 18,289,995 (GRCm39)	E211G	probably damaging	Het
Nup155	T	A	15: 8,165,311 (GRCm39)	M649K	probably benign	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pisd	A	G	5: 32,896,209 (GRCm39)	V372A	probably damaging	Het
Prim1	T	A	10: 127,859,668 (GRCm39)	C288S	probably benign	Het
Rab23	T	A	1: 33,763,019 (GRCm39)	C30S	probably damaging	Het
Sacs	A	G	14: 61,440,344 (GRCm39)	T797A	probably benign	Het
Sall3	T	C	18: 81,015,108 (GRCm39)	D940G	probably benign	Het
Scn1a	T	C	2: 66,161,615 (GRCm39)	E311G	probably benign	Het
Sdk1	T	A	5: 142,129,573 (GRCm39)	I1598N	probably damaging	Het
Slc22a17	A	T	14: 55,145,957 (GRCm39)		probably null	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Sprr3	T	A	3: 92,364,253 (GRCm39)	Q197L	possibly damaging	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Tas2r123	T	A	6: 132,824,295 (GRCm39)	V64D	probably damaging	Het
Trhde	T	G	10: 114,424,336 (GRCm39)	N483T	possibly damaging	Het
Trp53	C	T	11: 69,479,323 (GRCm39)	T167M	probably damaging	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tut4	T	C	4: 108,336,720 (GRCm39)	L148P	probably benign	Het
Usp17la	A	G	7: 104,509,527 (GRCm39)	E44G	possibly damaging	Het
Usp40	T	G	1: 87,906,258 (GRCm39)	Q659P	probably benign	Het
Vmn1r4	T	C	6: 56,933,723 (GRCm39)	C76R	probably damaging	Het
Vmn2r118	C	T	17: 55,899,925 (GRCm39)	G660R	probably damaging	Het
Zfp786	T	A	6: 47,796,691 (GRCm39)	H749L	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
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'- CACAATGTCCGGCAGGTTTG -3'
(R):5'- CAGTTAGGATTGCCAGATTTTCAC -3'

Sequencing Primer
(F):5'- TTTGGCAAACAGGAAGTACACGTTG -3'
(R):5'- GGATTGCCAGATTTTCACATACTTTG -3'

Posted On

2014-08-25