Mutagenetix > Incidental Mutation

Incidental Mutation 'R6110:Cimap1a'

484788

Institutional Source

Beutler Lab

Gene Symbol

Cimap1a

Ensembl Gene

ENSMUSG00000025482

Gene Name

ciliary microtubule associated protein 1A

Synonyms

SHIPPO1, 1700011O04Rik, Odf3

MMRRC Submission

044428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140427829-140430838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140428554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 73 (R73L)

Ref Sequence

ENSEMBL: ENSMUSP00000101664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000035300] [ENSMUST00000106049] [ENSMUST00000209690]

AlphaFold

Q920N1

Predicted Effect

probably benign
Transcript: ENSMUST00000026555
AA Change: R47L

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
AA Change: R47L

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	25	59	3.8e-3	PFAM
Pfam:SHIPPO-rpt	65	95	7.8e-2	PFAM
Pfam:SHIPPO-rpt	100	131	1.2e-7	PFAM
Pfam:SHIPPO-rpt	136	170	3.9e-4	PFAM
Pfam:SHIPPO-rpt	179	209	3e-4	PFAM
Pfam:SHIPPO-rpt	215	245	9.6e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026557

SMART Domains

Protein: ENSMUSP00000026557
Gene: ENSMUSG00000025484

Domain	Start	End	E-Value	Type
Pfam:SNARE	20	82	3.4e-13	PFAM
transmembrane domain	87	106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035300

SMART Domains

Protein: ENSMUSP00000048722
Gene: ENSMUSG00000038801

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
UTG	30	91	1.66e0	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106049
AA Change: R73L

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: R73L

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	126	157	9.4e-6	PFAM
Pfam:SHIPPO-rpt	162	196	1e-3	PFAM
Pfam:SHIPPO-rpt	241	271	7.4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190581

Predicted Effect

probably benign
Transcript: ENSMUST00000209690

Meta Mutation Damage Score

0.4168

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7b	T	C	4: 56,740,224 (GRCm39)	E378G	probably damaging	Het
Adam17	A	T	12: 21,403,949 (GRCm39)	V99E	probably damaging	Het
Alkal2	G	A	12: 30,937,057 (GRCm39)	R90Q	probably damaging	Het
Amy1	C	T	3: 113,355,549 (GRCm39)	V309M	probably damaging	Het
Apob	T	C	12: 8,061,883 (GRCm39)	L3455P	probably damaging	Het
Ash1l	T	A	3: 88,892,436 (GRCm39)	H1438Q	probably damaging	Het
BC024139	A	G	15: 76,003,996 (GRCm39)	S757P	probably benign	Het
Btd	G	A	14: 31,363,065 (GRCm39)		probably benign	Het
C2cd3	T	A	7: 100,090,283 (GRCm39)	F462Y	probably damaging	Het
C4bp	T	A	1: 130,566,809 (GRCm39)	K177*	probably null	Het
Cacna1h	G	T	17: 25,610,250 (GRCm39)	P752Q	probably benign	Het
Cd34	G	A	1: 194,631,877 (GRCm39)		probably null	Het
Clptm1	G	A	7: 19,367,731 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,673,802 (GRCm39)	S1081P	probably damaging	Het
Dnm3	CAGCCTTCGTTGGGTG	C	1: 161,838,637 (GRCm39)		probably benign	Het
Efcab6	T	G	15: 83,763,835 (GRCm39)	M1166L	possibly damaging	Het
Fam151a	G	A	4: 106,605,395 (GRCm39)	V586M	probably damaging	Het
Fap	T	G	2: 62,385,114 (GRCm39)	Y54S	possibly damaging	Het
Grhl1	A	G	12: 24,630,746 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,167,064 (GRCm39)	Y91C	probably damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Kat6b	C	T	14: 21,720,555 (GRCm39)	R1745C	probably damaging	Het
Kdm5a	T	C	6: 120,389,267 (GRCm39)	L898P	probably damaging	Het
Lipo5	T	C	19: 33,445,317 (GRCm39)	Q84R	unknown	Het
Mfn1	G	A	3: 32,617,173 (GRCm39)	M18I	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mtfmt	T	C	9: 65,354,586 (GRCm39)		probably null	Het
Nsun2	C	G	13: 69,775,767 (GRCm39)	Q404E	probably benign	Het
Or1j17	T	C	2: 36,578,559 (GRCm39)	S182P	probably benign	Het
Or2at4	C	T	7: 99,384,377 (GRCm39)	S9L	possibly damaging	Het
Or52d1	A	G	7: 103,755,779 (GRCm39)	M98V	probably damaging	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Or5j3	T	A	2: 86,129,019 (GRCm39)	N286K	probably damaging	Het
Or5p70	G	T	7: 107,995,035 (GRCm39)	S236I	possibly damaging	Het
Or6c215	G	A	10: 129,637,689 (GRCm39)	A235V	probably damaging	Het
Or6c215	C	A	10: 129,637,690 (GRCm39)	A235S	probably damaging	Het
Parp9	A	G	16: 35,773,996 (GRCm39)	I90V	possibly damaging	Het
Pate7	A	T	9: 35,688,442 (GRCm39)	S48T	possibly damaging	Het
Pax2	T	A	19: 44,779,175 (GRCm39)	S183T	probably damaging	Het
Pcdha11	T	C	18: 37,144,509 (GRCm39)	L200P	probably damaging	Het
Pcdhb4	T	C	18: 37,441,482 (GRCm39)	V264A	possibly damaging	Het
Plch1	G	T	3: 63,606,279 (GRCm39)	N1199K	possibly damaging	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Qars1	T	C	9: 108,385,297 (GRCm39)	S6P	probably benign	Het
Sema3a	T	C	5: 13,630,969 (GRCm39)	Y502H	probably damaging	Het
Sema4f	A	G	6: 82,914,085 (GRCm39)	I91T	probably damaging	Het
Setx	T	G	2: 29,030,302 (GRCm39)	I247S	probably damaging	Het
Slc9c1	T	C	16: 45,395,731 (GRCm39)	L594P	probably damaging	Het
Tnfrsf19	A	T	14: 61,208,588 (GRCm39)	M311K	probably benign	Het
Tubgcp4	T	C	2: 121,024,589 (GRCm39)	I588T	probably benign	Het
Tyro3	T	C	2: 119,643,304 (GRCm39)	V655A	probably damaging	Het
Uba7	T	A	9: 107,856,138 (GRCm39)	D504E	probably benign	Het
Vav3	C	T	3: 109,571,681 (GRCm39)	T201M	probably damaging	Het
Vldlr	A	G	19: 27,215,477 (GRCm39)	E117G	possibly damaging	Het
Vmn2r44	A	T	7: 8,381,005 (GRCm39)	I296K	probably damaging	Het
Vmn2r80	T	A	10: 79,017,837 (GRCm39)	C521S	probably damaging	Het
Wnk1	A	T	6: 119,949,958 (GRCm39)		probably benign	Het
Xpo1	T	C	11: 23,237,434 (GRCm39)	S766P	probably damaging	Het
Zcchc4	A	G	5: 52,953,486 (GRCm39)	N165S	possibly damaging	Het

Other mutations in Cimap1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0051:Cimap1a	UTSW	7	140,430,134 (GRCm39)	unclassified	probably benign
R0547:Cimap1a	UTSW	7	140,428,728 (GRCm39)	splice site	probably null
R0981:Cimap1a	UTSW	7	140,428,208 (GRCm39)	missense	probably benign	0.00
R1221:Cimap1a	UTSW	7	140,428,296 (GRCm39)	missense	probably damaging	1.00
R2849:Cimap1a	UTSW	7	140,429,182 (GRCm39)	missense	probably benign	0.00
R4833:Cimap1a	UTSW	7	140,428,191 (GRCm39)	start codon destroyed	probably null
R4854:Cimap1a	UTSW	7	140,429,375 (GRCm39)	missense	probably damaging	1.00
R4896:Cimap1a	UTSW	7	140,428,398 (GRCm39)	intron	probably benign
R5109:Cimap1a	UTSW	7	140,429,461 (GRCm39)	missense	probably benign	0.11
R6354:Cimap1a	UTSW	7	140,430,527 (GRCm39)	splice site	probably null
R6441:Cimap1a	UTSW	7	140,429,161 (GRCm39)	missense	probably damaging	1.00
R6516:Cimap1a	UTSW	7	140,428,718 (GRCm39)	missense	probably damaging	0.99
R6672:Cimap1a	UTSW	7	140,428,340 (GRCm39)	missense	probably benign	0.27
R7086:Cimap1a	UTSW	7	140,429,402 (GRCm39)	missense	probably benign
R7820:Cimap1a	UTSW	7	140,429,176 (GRCm39)	missense	probably benign	0.44
R8069:Cimap1a	UTSW	7	140,430,215 (GRCm39)	missense	probably benign	0.11
R9799:Cimap1a	UTSW	7	140,430,706 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCACGGGTAAGATTGCCTAAG -3'
(R):5'- TGGACATGCATATTAGGGCCC -3'

Sequencing Primer
(F):5'- AATCCTTGACTCCCATCG -3'
(R):5'- ATGCATATTAGGGCCCGGAGC -3'

Posted On

2017-08-16