Mutagenetix > Incidental Mutation

Incidental Mutation 'R8265:Cdr1'

639704

Institutional Source

Beutler Lab

Gene Symbol

Cdr1

Ensembl Gene

ENSMUSG00000090546

Gene Name

cerebellar degeneration related antigen 1

Synonyms

Gm7077, Cdr34, Gm2409

MMRRC Submission

067690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R8265 (G1)

Quality Score

210.458

Status

Not validated

Chromosome

Chromosomal Location

60227611-60229164 bp(-) (GRCm39)

Type of Mutation

small deletion (18 aa in frame mutation)

DNA Base Change (assembly)

AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC to AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC at 60228130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166381]

AlphaFold

E9Q0B4

Predicted Effect

probably benign
Transcript: ENSMUST00000166381

SMART Domains

Protein: ENSMUSP00000126250
Gene: ENSMUSG00000090546

Domain	Start	End	E-Value	Type
low complexity region	149	183	N/A	INTRINSIC
low complexity region	367	444	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	G	19: 3,766,568 (GRCm39)	T52A	probably benign	Het
Adam9	T	C	8: 25,457,202 (GRCm39)	Y642C	probably damaging	Het
Atp2c1	T	C	9: 105,347,315 (GRCm39)	E47G	probably benign	Het
Btbd9	T	A	17: 30,553,278 (GRCm39)	T395S	possibly damaging	Het
Cacna1s	G	A	1: 136,020,364 (GRCm39)	W800*	probably null	Het
Ceacam20	G	A	7: 19,708,159 (GRCm39)	V255M	probably damaging	Het
Cit	C	A	5: 116,126,236 (GRCm39)	L1610M	probably damaging	Het
Cped1	A	G	6: 22,222,426 (GRCm39)	T729A	probably benign	Het
Ddx19b	A	T	8: 111,735,824 (GRCm39)	V407E	probably damaging	Het
Dst	A	G	1: 34,217,603 (GRCm39)	K1348E	probably benign	Het
E2f4	T	A	8: 106,027,977 (GRCm39)	S302T	probably damaging	Het
Eif1	A	G	11: 100,211,299 (GRCm39)	E31G	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Herc1	C	T	9: 66,293,986 (GRCm39)	Q443*	probably null	Het
Hmgxb3	A	G	18: 61,300,410 (GRCm39)	V222A	possibly damaging	Het
Hnrnpu	A	T	1: 178,159,725 (GRCm39)	I452N	unknown	Het
Ints1	C	G	5: 139,757,919 (GRCm39)	D260H	probably damaging	Het
Kdm5a	T	A	6: 120,383,557 (GRCm39)	M766K	possibly damaging	Het
Lama4	G	A	10: 38,981,200 (GRCm39)	C1720Y	probably damaging	Het
Mei1	C	A	15: 81,987,508 (GRCm39)	Y433*	probably null	Het
Milr1	A	G	11: 106,654,711 (GRCm39)	K188E	probably benign	Het
Myo7a	A	G	7: 97,734,604 (GRCm39)	F630S	probably benign	Het
Myoz2	A	G	3: 122,800,172 (GRCm39)	F219L	probably benign	Het
Nt5c1a	T	C	4: 123,107,953 (GRCm39)	V212A	possibly damaging	Het
Or51f1e	A	G	7: 102,747,304 (GRCm39)	T119A	probably benign	Het
Or51v14	A	T	7: 103,261,048 (GRCm39)	C171S	possibly damaging	Het
Or8b42	T	C	9: 38,342,469 (GRCm39)	V297A	probably damaging	Het
Pi16	A	G	17: 29,545,947 (GRCm39)	T242A	probably benign	Het
Pigw	C	A	11: 84,770,847 (GRCm39)		probably benign	Het
Pipox	T	A	11: 77,774,793 (GRCm39)	T97S	probably benign	Het
Plagl1	C	A	10: 13,004,625 (GRCm39)	A631E	unknown	Het
Poteg	T	A	8: 27,984,923 (GRCm39)	H427Q	possibly damaging	Het
Prdm14	A	G	1: 13,184,618 (GRCm39)	S518P	probably damaging	Het
Rabep2	A	G	7: 126,043,423 (GRCm39)	E441G	probably benign	Het
Rasal3	A	G	17: 32,614,794 (GRCm39)		probably null	Het
Rbm33	T	C	5: 28,599,322 (GRCm39)	V90A		Het
Sidt1	C	A	16: 44,088,250 (GRCm39)	R381M	possibly damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,994,110 (GRCm39)	D51G	possibly damaging	Het
Taar8a	T	A	10: 23,952,839 (GRCm39)	S148T	probably damaging	Het
Tmem59l	A	G	8: 70,938,426 (GRCm39)	S149P	probably damaging	Het
Trafd1	T	A	5: 121,511,340 (GRCm39)	I493F	possibly damaging	Het
Trrap	C	T	5: 144,722,344 (GRCm39)	S289L	possibly damaging	Het
Zfp267	T	C	3: 36,213,677 (GRCm39)		probably benign	Het
Zfp955a	C	T	17: 33,463,087 (GRCm39)	V15M	probably damaging	Het

Other mutations in Cdr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02796:Cdr1	APN	X	60,228,087 (GRCm39)	missense	possibly damaging	0.90
IGL03201:Cdr1	APN	X	60,229,154 (GRCm39)	missense	unknown
PIT4466001:Cdr1	UTSW	X	60,228,130 (GRCm39)	small deletion	probably benign
R0309:Cdr1	UTSW	X	60,228,908 (GRCm39)	missense	unknown
R1691:Cdr1	UTSW	X	60,227,780 (GRCm39)	missense	possibly damaging	0.90
R2014:Cdr1	UTSW	X	60,228,420 (GRCm39)	missense	probably benign	0.27
R2015:Cdr1	UTSW	X	60,228,420 (GRCm39)	missense	probably benign	0.27
R2937:Cdr1	UTSW	X	60,228,968 (GRCm39)	missense	unknown
R2938:Cdr1	UTSW	X	60,228,968 (GRCm39)	missense	unknown
R7786:Cdr1	UTSW	X	60,228,130 (GRCm39)	small deletion	probably benign
R7849:Cdr1	UTSW	X	60,228,130 (GRCm39)	small deletion	probably benign
R7983:Cdr1	UTSW	X	60,228,130 (GRCm39)	small deletion	probably benign
R9746:Cdr1	UTSW	X	60,228,130 (GRCm39)	small deletion	probably benign
Z1088:Cdr1	UTSW	X	60,227,710 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TCCCAGAAATCGAAGTCTTCC -3'
(R):5'- CTGGGAAGACTTGGACTTCTGG -3'

Sequencing Primer
(F):5'- AGTCTTCCCGAAAATCCAAGTCTTC -3'
(R):5'- GACTTGGACTTCTGGGAAGAC -3'

Posted On

2020-07-28