Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Crxos'

17042

Institutional Source

Beutler Lab

Gene Symbol

Crxos

Ensembl Gene

ENSMUSG00000074365

Gene Name

cone-rod homeobox, opposite strand

Synonyms

Egam1, Crxos1

MMRRC Submission

038353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15616542-15637945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15632448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 40 (T40A)

Ref Sequence

ENSEMBL: ENSMUSP00000139388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098801] [ENSMUST00000125993] [ENSMUST00000130566] [ENSMUST00000150050] [ENSMUST00000171280] [ENSMUST00000173808]

AlphaFold

Q3UL53

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098801
AA Change: T85A

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096399
Gene: ENSMUSG00000074365
AA Change: T85A

Domain	Start	End	E-Value	Type
HOX	13	75	6.06e-4	SMART
HOX	123	185	3.93e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125993
AA Change: T40A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139388
Gene: ENSMUSG00000074365
AA Change: T40A

Domain	Start	End	E-Value	Type
Blast:HOX	1	30	8e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000130566
AA Change: T40A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138909
Gene: ENSMUSG00000074365
AA Change: T40A

Domain	Start	End	E-Value	Type
Blast:HOX	1	30	1e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000150050
AA Change: T85A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133563
Gene: ENSMUSG00000074365
AA Change: T85A

Domain	Start	End	E-Value	Type
HOX	13	75	6.06e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171280

SMART Domains

Protein: ENSMUSP00000130485
Gene: ENSMUSG00000074365

Domain	Start	End	E-Value	Type
HOX	19	81	3.93e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173808

SMART Domains

Protein: ENSMUSP00000138891
Gene: ENSMUSG00000074365

Domain	Start	End	E-Value	Type
Pfam:Homeobox	8	50	2.4e-11	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	C	11: 58,313,008 (GRCm39)		probably benign	Het
4930432E11Rik	A	G	7: 29,273,595 (GRCm39)		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,192,875 (GRCm39)		noncoding transcript	Het
Abca8a	T	C	11: 109,961,306 (GRCm39)	T539A	probably damaging	Het
Adam34	A	T	8: 44,128,920 (GRCm39)		probably benign	Het
Ankrd60	A	T	2: 173,414,406 (GRCm39)	M1K	probably null	Het
Cald1	T	C	6: 34,692,394 (GRCm39)		probably benign	Het
Capn7	T	C	14: 31,087,561 (GRCm39)		probably benign	Het
Cd109	G	A	9: 78,610,389 (GRCm39)	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,806,399 (GRCm39)	V2353D	probably damaging	Het
Cep135	A	T	5: 76,769,197 (GRCm39)	I616F	probably benign	Het
Cep162	T	A	9: 87,119,878 (GRCm39)		probably benign	Het
Cep350	C	T	1: 155,804,372 (GRCm39)	D904N	probably damaging	Het
Cep85	T	C	4: 133,894,611 (GRCm39)	D65G	probably damaging	Het
Cfdp1	T	C	8: 112,566,986 (GRCm39)		probably benign	Het
Chl1	T	A	6: 103,688,019 (GRCm39)		probably benign	Het
Colec10	G	A	15: 54,302,542 (GRCm39)		probably benign	Het
Dnhd1	A	G	7: 105,317,721 (GRCm39)	D472G	probably damaging	Het
Dpp6	C	A	5: 27,803,817 (GRCm39)	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,786,857 (GRCm39)	L11S	probably damaging	Het
Flad1	G	A	3: 89,309,552 (GRCm39)	R515*	probably null	Het
Fzd5	T	C	1: 64,774,835 (GRCm39)	T309A	probably benign	Het
Gm19685	T	C	17: 61,075,418 (GRCm39)			Het
Gsdme	A	G	6: 50,198,009 (GRCm39)	I317T	possibly damaging	Het
H2bc1	A	T	13: 24,117,928 (GRCm39)	I71N	possibly damaging	Het
Incenp	A	G	19: 9,862,823 (GRCm39)		probably benign	Het
Itgad	T	C	7: 127,802,158 (GRCm39)	S979P	probably damaging	Het
Kat2b	T	C	17: 53,961,571 (GRCm39)	V557A	probably damaging	Het
Lamc1	A	T	1: 153,117,614 (GRCm39)		probably benign	Het
Lgi4	G	A	7: 30,762,996 (GRCm39)	G157D	probably damaging	Het
Mga	T	C	2: 119,791,442 (GRCm39)		probably null	Het
Nubpl	T	C	12: 52,357,470 (GRCm39)		probably benign	Het
Or2b4	T	C	17: 38,116,891 (GRCm39)	L285P	probably damaging	Het
Or5be3	T	C	2: 86,864,118 (GRCm39)	Y149C	probably damaging	Het
Or8c20	C	T	9: 38,260,808 (GRCm39)	S143F	probably benign	Het
Peak1	A	T	9: 56,135,107 (GRCm39)	I78K	probably damaging	Het
Prune2	T	A	19: 16,981,097 (GRCm39)	F85I	probably damaging	Het
Rbm11	G	T	16: 75,395,667 (GRCm39)	D113Y	probably damaging	Het
Rif1	C	T	2: 52,001,129 (GRCm39)	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,859,293 (GRCm39)		probably benign	Het
Slc30a4	T	A	2: 122,527,104 (GRCm39)	T381S	probably benign	Het
Slf2	G	T	19: 44,936,443 (GRCm39)	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,465,953 (GRCm39)	Y134C	probably damaging	Het
Tmem273	C	A	14: 32,528,726 (GRCm39)		probably benign	Het
Tmem89	T	A	9: 108,744,485 (GRCm39)	V126D	probably damaging	Het
Trf	T	C	9: 103,098,121 (GRCm39)	T46A	probably benign	Het
Trmt6	C	T	2: 132,648,689 (GRCm39)	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,035,006 (GRCm39)	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,445,701 (GRCm39)	D559E	probably benign	Het
Wdr75	A	G	1: 45,855,777 (GRCm39)	D476G	probably benign	Het
Wrap53	A	C	11: 69,454,256 (GRCm39)	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,964,420 (GRCm39)	I292N	possibly damaging	Het

Other mutations in Crxos

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Crxos	APN	7	15,632,543 (GRCm39)	nonsense	probably null
IGL02888:Crxos	APN	7	15,636,855 (GRCm39)	missense	possibly damaging	0.71
R0491:Crxos	UTSW	7	15,632,460 (GRCm39)	missense	probably benign	0.01
R5111:Crxos	UTSW	7	15,630,142 (GRCm39)	unclassified	probably benign
R6185:Crxos	UTSW	7	15,636,805 (GRCm39)	missense	possibly damaging	0.71
R7474:Crxos	UTSW	7	15,636,856 (GRCm39)	missense	possibly damaging	0.85
R8223:Crxos	UTSW	7	15,631,394 (GRCm39)	missense	probably benign	0.00
R8488:Crxos	UTSW	7	15,637,625 (GRCm39)	missense	possibly damaging	0.92
R8788:Crxos	UTSW	7	15,632,499 (GRCm39)	missense	probably benign	0.01
R8944:Crxos	UTSW	7	15,636,900 (GRCm39)	missense	possibly damaging	0.95
R9156:Crxos	UTSW	7	15,631,436 (GRCm39)	missense	probably benign	0.14
R9221:Crxos	UTSW	7	15,636,850 (GRCm39)	missense	probably benign	0.03

Posted On

2013-01-20