Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Cimap1a'

735100

Institutional Source

Beutler Lab

Gene Symbol

Cimap1a

Ensembl Gene

ENSMUSG00000025482

Gene Name

ciliary microtubule associated protein 1A

Synonyms

SHIPPO1, 1700011O04Rik, Odf3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140427829-140430838 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140430706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 254 (E254D)

Ref Sequence

ENSEMBL: ENSMUSP00000026555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026555] [ENSMUST00000026557] [ENSMUST00000035300] [ENSMUST00000106049] [ENSMUST00000209320] [ENSMUST00000209690] [ENSMUST00000210710] [ENSMUST00000211527] [ENSMUST00000211590] [ENSMUST00000211624]

AlphaFold

Q920N1

Predicted Effect

probably benign
Transcript: ENSMUST00000026555
AA Change: E254D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
AA Change: E254D

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

probably benign
Transcript: ENSMUST00000106049
AA Change: E280D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: E280D

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

probably benign
Transcript: ENSMUST00000209320

Predicted Effect

probably benign
Transcript: ENSMUST00000209690

Predicted Effect

probably benign
Transcript: ENSMUST00000210710

Predicted Effect

probably benign
Transcript: ENSMUST00000211527

Predicted Effect

probably benign
Transcript: ENSMUST00000211590

Predicted Effect

probably benign
Transcript: ENSMUST00000211624

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,998 (GRCm39)	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,768,961 (GRCm39)	T1056A	probably benign	Het
Adcy2	T	A	13: 68,805,489 (GRCm39)	R826S	probably damaging	Het
Agxt	T	C	1: 93,063,070 (GRCm39)	W19R	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Arhgef10	T	C	8: 14,990,268 (GRCm39)	Y248H	probably damaging	Het
Arhgef38	T	C	3: 132,855,391 (GRCm39)	D232G	unknown	Het
Arid4b	T	C	13: 14,358,967 (GRCm39)	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,505 (GRCm39)	S775R	probably damaging	Het
Ccl25	T	C	8: 4,377,799 (GRCm39)	F20L	unknown	Het
Cr2	T	A	1: 194,842,988 (GRCm39)	H218L	probably benign	Het
Csnka2ip	T	C	16: 64,298,672 (GRCm39)	K564R	unknown	Het
Cyp2r1	A	G	7: 114,151,207 (GRCm39)	F371L	probably benign	Het
Ddx50	A	T	10: 62,469,812 (GRCm39)	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,557,968 (GRCm39)	T2149A	probably benign	Het
Emx2	A	G	19: 59,448,036 (GRCm39)	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,971,384 (GRCm39)	D744G	probably benign	Het
Gcm2	T	C	13: 41,258,924 (GRCm39)	N140S	probably damaging	Het
Gnai2	C	T	9: 107,512,380 (GRCm39)	A13T	probably benign	Het
Gpr150	T	C	13: 76,204,636 (GRCm39)	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,091,901 (GRCm39)		probably null	Het
Kdr	A	G	5: 76,117,752 (GRCm39)	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,612,400 (GRCm39)	I534T		Het
Lrrtm3	T	A	10: 63,925,749 (GRCm39)		probably benign	Het
Meiob	C	T	17: 25,042,574 (GRCm39)	T134I	probably benign	Het
Msh2	G	T	17: 88,024,933 (GRCm39)	A604S	probably damaging	Het
Mterf3	T	C	13: 67,062,780 (GRCm39)	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,490,181 (GRCm39)	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,496,400 (GRCm39)	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 125,989,739 (GRCm39)	V215A	probably damaging	Het
Or52e19	A	T	7: 102,959,065 (GRCm39)	T46S	probably damaging	Het
Or8k41	A	T	2: 86,313,732 (GRCm39)	M118K	probably damaging	Het
Pabpc6	C	T	17: 9,888,114 (GRCm39)	E146K	probably damaging	Het
Pde3b	A	G	7: 114,122,613 (GRCm39)	Y727C	probably damaging	Het
Pemt	A	G	11: 59,937,174 (GRCm39)	F30L	possibly damaging	Het
Plch1	A	G	3: 63,605,591 (GRCm39)	S1438P	possibly damaging	Het
Pnma2	T	A	14: 67,154,009 (GRCm39)	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,952,825 (GRCm39)	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,054,236 (GRCm39)	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,489 (GRCm39)	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,315,126 (GRCm39)	H426Q	probably damaging	Het
Rimbp3	A	G	16: 17,027,641 (GRCm39)	E355G	possibly damaging	Het
Rxfp1	A	G	3: 79,578,182 (GRCm39)	F170L	probably damaging	Het
Sema3f	G	T	9: 107,562,562 (GRCm39)	A473E	probably damaging	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Siglec1	G	T	2: 130,915,941 (GRCm39)	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,331,535 (GRCm39)	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,523,068 (GRCm39)	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,142,074 (GRCm39)	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,454,973 (GRCm39)	N373Y	probably benign	Het
Tmem217	A	C	17: 29,745,232 (GRCm39)	I166S	probably damaging	Het
Top1	T	A	2: 160,563,406 (GRCm39)	Y746N	probably damaging	Het
Tubb2a	C	T	13: 34,260,607 (GRCm39)	D31N	probably benign	Het
Utrn	T	G	10: 12,585,736 (GRCm39)	I1014L	probably benign	Het
Vtn	T	C	11: 78,392,625 (GRCm39)	I401T	probably benign	Het
Wwc2	G	T	8: 48,321,595 (GRCm39)	H506Q	unknown	Het
Xab2	G	T	8: 3,668,182 (GRCm39)	T132N	probably benign	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
R6110:Cimap1a	UTSW	7	140,428,554 (GRCm39)	missense	possibly damaging	0.73
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

Predicted Primers

PCR Primer
(F):5'- TGTCCCCAGTTAACAGGGTTAC -3'
(R):5'- AATTTGGACATGGCAAGAAACC -3'

Sequencing Primer
(F):5'- GGGTTACTGAACACACACTGGC -3'
(R):5'- TGGACATGGCAAGAAACCAGATTAAC -3'

Posted On

2022-11-14