Mutagenetix > Incidental Mutation

Incidental Mutation 'R4417:Cabp1'

326879

Institutional Source

Beutler Lab

Gene Symbol

Cabp1

Ensembl Gene

ENSMUSG00000029544

Gene Name

calcium binding protein 1

Synonyms

caldendrin

MMRRC Submission

041138-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4417 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

115306750-115332440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115324096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 7 (S7L)

Ref Sequence

ENSEMBL: ENSMUSP00000138183 (fasta)

Gene Model

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

AlphaFold

Q9JLK7

Predicted Effect

probably benign
Transcript: ENSMUST00000031519
AA Change: S7L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000031519
Gene: ENSMUSG00000029544
AA Change: S7L

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: S7L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000107740
Gene: ENSMUSG00000029544
AA Change: S7L

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

SMART Domains

Protein: ENSMUSP00000107741
Gene: ENSMUSG00000029544

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

possibly damaging
Transcript: ENSMUST00000145197
AA Change: S7L

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201900

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (53/53)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	T	A	1: 85,654,184 (GRCm39)	Y51F	probably damaging	Het
Abi3bp	C	A	16: 56,474,398 (GRCm39)	T631K	probably damaging	Het
BC004004	G	A	17: 29,501,249 (GRCm39)		probably benign	Het
Cdc23	ACC	AC	18: 34,770,371 (GRCm39)		probably null	Het
Clhc1	T	C	11: 29,521,826 (GRCm39)	I453T	possibly damaging	Het
Col28a1	T	A	6: 8,175,666 (GRCm39)	I61F	possibly damaging	Het
Col2a1	T	C	15: 97,896,466 (GRCm39)	E61G	unknown	Het
Col6a4	C	T	9: 105,949,215 (GRCm39)	V807I	probably damaging	Het
Crhbp	T	C	13: 95,580,385 (GRCm39)	S65G	probably benign	Het
Dnah9	T	A	11: 65,872,040 (GRCm39)	Q2730L	possibly damaging	Het
Epx	T	A	11: 87,760,256 (GRCm39)	R453*	probably null	Het
Fez1	T	C	9: 36,781,768 (GRCm39)		probably benign	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glp2r	T	C	11: 67,555,342 (GRCm39)		probably benign	Het
Gpm6a	T	A	8: 55,503,223 (GRCm39)	N157K	probably damaging	Het
Kcnj2	T	C	11: 110,963,015 (GRCm39)	S136P	probably damaging	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lcp2	G	T	11: 34,000,917 (GRCm39)	E33D	probably benign	Het
Lrrc32	G	T	7: 98,148,144 (GRCm39)	R308L	probably benign	Het
Matr3	C	A	18: 35,705,171 (GRCm39)	A32D	probably damaging	Het
Mfsd12	A	G	10: 81,200,537 (GRCm39)		probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,038,586 (GRCm39)	D1243G	possibly damaging	Het
Odf2	T	A	2: 29,805,333 (GRCm39)		probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or4c125	T	C	2: 89,170,331 (GRCm39)	E105G	probably benign	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pitpnm2	G	T	5: 124,261,632 (GRCm39)	R977S	probably damaging	Het
Prdm13	T	C	4: 21,678,756 (GRCm39)	E578G	probably benign	Het
Pum3	A	G	19: 27,400,116 (GRCm39)	I183T	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Slit1	A	G	19: 41,602,908 (GRCm39)	C968R	probably damaging	Het
Spag9	A	T	11: 93,951,172 (GRCm39)		probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Stradb	T	C	1: 59,033,531 (GRCm39)	V398A	probably benign	Het
Tlr4	A	T	4: 66,757,540 (GRCm39)	N111I	probably damaging	Het
Tnip2	G	A	5: 34,660,925 (GRCm39)	R176*	probably null	Het
Tomm7	A	G	5: 24,048,977 (GRCm39)	I32T	probably benign	Het
Trank1	T	C	9: 111,195,036 (GRCm39)	I1020T	probably benign	Het
Ugt1a10	T	G	1: 87,983,717 (GRCm39)	S172A	probably benign	Het
Vmn2r115	T	A	17: 23,564,854 (GRCm39)	M247K	probably benign	Het
Zfp341	T	C	2: 154,470,907 (GRCm39)	L308P	possibly damaging	Het
Zmym6	T	C	4: 126,986,781 (GRCm39)	S154P	probably damaging	Het

Other mutations in Cabp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1280:Cabp1	UTSW	5	115,313,530 (GRCm39)	missense	probably benign	0.06
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
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'- TCTTGAAGTCAGAATAGGGACACAG -3'
(R):5'- GCCTTCGGCTCCTTAAGAAAC -3'

Sequencing Primer
(F):5'- GGACACAGTTTTGGACAGACACC -3'
(R):5'- AGACTGAGGTCTTCTGC -3'

Posted On

2015-07-07