Mutagenetix > Incidental Mutation

Incidental Mutation 'R1280:Cabp1'

151001

Institutional Source

Beutler Lab

Gene Symbol

Cabp1

Ensembl Gene

ENSMUSG00000029544

Gene Name

calcium binding protein 1

Synonyms

caldendrin

MMRRC Submission

039346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115306750-115332440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115313530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 226 (N226S)

Ref Sequence

ENSEMBL: ENSMUSP00000107741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031519] [ENSMUST00000112112] [ENSMUST00000112113] [ENSMUST00000145197]

AlphaFold

Q9JLK7

Predicted Effect

probably benign
Transcript: ENSMUST00000031519
AA Change: N103S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: N103S

Domain	Start	End	E-Value	Type
EFh	86	114	1.22e-5	SMART
Blast:EFh	122	150	1e-7	BLAST
EFh	163	191	3.93e-9	SMART
EFh	200	227	7.82e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000112109

SMART Domains

Protein: ENSMUSP00000107737
Gene: ENSMUSG00000029544

Domain	Start	End	E-Value	Type
EFh	71	99	1.22e-5	SMART
Blast:EFh	107	135	8e-8	BLAST
EFh	148	176	3.93e-9	SMART
EFh	185	212	7.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112112
AA Change: N43S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: N43S

Domain	Start	End	E-Value	Type
EFh	26	54	1.22e-5	SMART
Blast:EFh	62	90	5e-8	BLAST
EFh	103	131	3.93e-9	SMART
EFh	140	167	7.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112113
AA Change: N226S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544
AA Change: N226S

Domain	Start	End	E-Value	Type
low complexity region	29	55	N/A	INTRINSIC
low complexity region	58	113	N/A	INTRINSIC
low complexity region	159	171	N/A	INTRINSIC
EFh	209	237	1.22e-5	SMART
Blast:EFh	245	273	3e-7	BLAST
EFh	286	314	3.93e-9	SMART
EFh	323	350	7.82e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000145197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201900

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele are viable and fertile and show no apparent motor deficits, but they are affected in the transmission of responses to light through the retinal circuits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Atp5mc3	G	T	2: 73,739,714 (GRCm39)	T42K	possibly damaging	Het
Brd2	T	C	17: 34,333,124 (GRCm39)	M60V	possibly damaging	Het
Cers6	G	A	2: 68,899,033 (GRCm39)	V224I	probably benign	Het
Entpd2	C	T	2: 25,289,496 (GRCm39)	S326F	probably damaging	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Myo18b	A	G	5: 112,871,671 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,787,010 (GRCm39)	L20Q	probably damaging	Het
Neil1	T	C	9: 57,054,185 (GRCm39)	Y45C	probably damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Rbm12	T	C	2: 155,938,749 (GRCm39)	K508E	probably damaging	Het
Socs4	A	T	14: 47,528,370 (GRCm39)	Q435L	probably benign	Het
Tdrd9	T	C	12: 112,005,842 (GRCm39)	V905A	probably damaging	Het
Tekt4	T	A	17: 25,690,861 (GRCm39)	W56R	probably damaging	Het
Ttn	A	T	2: 76,608,508 (GRCm39)	I16059N	possibly damaging	Het
Ubqln3	A	G	7: 103,791,283 (GRCm39)	V269A	possibly damaging	Het
Vps54	T	A	11: 21,227,868 (GRCm39)	I273N	possibly damaging	Het
Zfp831	A	G	2: 174,545,852 (GRCm39)	K1319R	probably benign	Het

Other mutations in Cabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1307:Cabp1	UTSW	5	115,310,965 (GRCm39)	missense	probably damaging	0.99
R1435:Cabp1	UTSW	5	115,311,267 (GRCm39)	missense	probably damaging	1.00
R2509:Cabp1	UTSW	5	115,310,843 (GRCm39)	missense	probably damaging	1.00
R4417:Cabp1	UTSW	5	115,324,096 (GRCm39)	missense	possibly damaging	0.68
R4788:Cabp1	UTSW	5	115,313,530 (GRCm39)	missense	probably benign	0.06
R4837:Cabp1	UTSW	5	115,311,212 (GRCm39)	missense	probably damaging	1.00
R5026:Cabp1	UTSW	5	115,313,531 (GRCm39)	missense	possibly damaging	0.83
R5199:Cabp1	UTSW	5	115,324,102 (GRCm39)	missense	possibly damaging	0.92
R6513:Cabp1	UTSW	5	115,307,193 (GRCm39)	missense	possibly damaging	0.51
R6941:Cabp1	UTSW	5	115,310,960 (GRCm39)	missense	probably damaging	1.00
R9659:Cabp1	UTSW	5	115,311,187 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTCAGAAAAGACAAGCGGGTTTGTG -3'
(R):5'- GTTCACTTGGAACAGTCCCTAGCAC -3'

Sequencing Primer
(F):5'- tgtcgggaaacacagaacac -3'
(R):5'- CAGGGATCATTTTGTAGAGAGCC -3'

Posted On

2014-01-29