Mutagenetix > Incidental Mutation

Incidental Mutation 'R7303:Cimap1d'

567117

Institutional Source

Beutler Lab

Gene Symbol

Cimap1d

Ensembl Gene

ENSMUSG00000035963

Gene Name

CIMAP1 family member D

Synonyms

Odf3l2, LOC382384

MMRRC Submission

045364-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7303 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79475360-79481572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79478525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 80 (P80S)

Ref Sequence

ENSEMBL: ENSMUSP00000093117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020564] [ENSMUST00000095464]

AlphaFold

Q3TZ65

Predicted Effect

probably benign
Transcript: ENSMUST00000020564

SMART Domains

Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312

Domain	Start	End	E-Value	Type
PTB	1	154	4.43e-24	SMART
low complexity region	172	178	N/A	INTRINSIC
SH2	341	420	5.81e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095464
AA Change: P80S

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

SMART Domains

Protein: ENSMUSP00000093117
Gene: ENSMUSG00000035963
AA Change: P80S

Domain	Start	End	E-Value	Type
Pfam:SHIPPO-rpt	121	152	1.2e-9	PFAM
Pfam:SHIPPO-rpt	201	232	2.1e-6	PFAM
Pfam:SHIPPO-rpt	237	267	7.1e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	G	17: 24,617,495 (GRCm39)	L1064R	possibly damaging	Het
Abca7	A	T	10: 79,850,822 (GRCm39)	D2051V	probably benign	Het
Abcb5	T	A	12: 118,875,295 (GRCm39)	I626F	probably damaging	Het
Abcg5	A	G	17: 84,977,774 (GRCm39)	S333P	probably damaging	Het
Abl2	T	C	1: 156,468,820 (GRCm39)	S695P	probably benign	Het
Aen	C	T	7: 78,552,204 (GRCm39)	P55S	possibly damaging	Het
Afg3l1	G	T	8: 124,228,008 (GRCm39)	A598S	probably damaging	Het
Aldh16a1	A	T	7: 44,797,328 (GRCm39)	L160Q	probably damaging	Het
Ang	A	T	14: 51,338,973 (GRCm39)	H38L	probably benign	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Aox1	A	T	1: 58,373,924 (GRCm39)	K862*	probably null	Het
Brme1	G	C	8: 84,887,862 (GRCm39)	G71A	probably benign	Het
Cad	T	C	5: 31,217,557 (GRCm39)		probably null	Het
Cc2d2b	A	T	19: 40,797,438 (GRCm39)	Y740F	unknown	Het
Ccdc182	T	C	11: 88,185,042 (GRCm39)	Y41H	probably benign	Het
Chd9	A	G	8: 91,778,532 (GRCm39)	R2848G	unknown	Het
Chrna6	A	T	8: 27,897,019 (GRCm39)	L286*	probably null	Het
Cracr2b	A	G	7: 141,043,115 (GRCm39)		probably benign	Het
Fam184b	C	T	5: 45,699,568 (GRCm39)		probably null	Het
Flnc	T	C	6: 29,460,849 (GRCm39)	S2647P	probably benign	Het
Ftsj3	T	C	11: 106,145,506 (GRCm39)	D76G	probably damaging	Het
Fxyd1	T	A	7: 30,753,743 (GRCm39)	M17L	probably benign	Het
Golim4	G	A	3: 75,785,360 (GRCm39)	S677L	probably damaging	Het
Gpr149	A	G	3: 62,502,491 (GRCm39)	V455A	possibly damaging	Het
H2-Q1	C	A	17: 35,540,312 (GRCm39)	S132R	probably benign	Het
H2-Q7	A	G	17: 35,659,037 (GRCm39)	I163V	probably benign	Het
Herc1	A	T	9: 66,358,098 (GRCm39)	D2393V	possibly damaging	Het
Hmgb2	A	G	8: 57,965,762 (GRCm39)	K44E	possibly damaging	Het
Itgad	A	G	7: 127,789,351 (GRCm39)	D605G	probably benign	Het
Kbtbd12	G	T	6: 88,591,094 (GRCm39)	F16L	unknown	Het
Klhl23	T	C	2: 69,655,045 (GRCm39)	I305T	probably benign	Het
Lrguk	A	T	6: 34,006,411 (GRCm39)	N7I	probably benign	Het
Lrp5	A	G	19: 3,641,774 (GRCm39)	L1396P	probably damaging	Het
Mapkapk5	T	C	5: 121,678,637 (GRCm39)	E13G	probably benign	Het
Mark3	T	C	12: 111,621,970 (GRCm39)	V704A	probably damaging	Het
Mast2	A	G	4: 116,165,508 (GRCm39)	S1303P	possibly damaging	Het
Mcm2	T	C	6: 88,864,928 (GRCm39)	D516G	probably damaging	Het
Mon2	A	T	10: 122,874,364 (GRCm39)		probably null	Het
Mrc2	T	A	11: 105,216,629 (GRCm39)	N139K	probably damaging	Het
Myh14	C	T	7: 44,261,125 (GRCm39)	E1789K	probably damaging	Het
Myh7b	T	A	2: 155,460,660 (GRCm39)	L271Q	probably damaging	Het
Oog2	A	T	4: 143,921,912 (GRCm39)	H274L	probably benign	Het
Oosp1	A	C	19: 11,645,774 (GRCm39)	S121R	probably benign	Het
Or13a28	T	C	7: 140,218,267 (GRCm39)	S218P	probably damaging	Het
Or8k3b	A	G	2: 86,521,166 (GRCm39)	V51A	probably benign	Het
Pepd	T	C	7: 34,721,197 (GRCm39)		probably null	Het
Pik3c2a	A	C	7: 116,005,178 (GRCm39)	S363R	probably benign	Het
Polr2b	T	C	5: 77,468,868 (GRCm39)	Y215H	probably benign	Het
Ppcdc	A	T	9: 57,321,958 (GRCm39)	V194E	probably benign	Het
Rabgap1l	A	C	1: 160,509,667 (GRCm39)	I470S	probably benign	Het
Scgb1b3	G	A	7: 31,075,383 (GRCm39)	A78T	probably benign	Het
Slc9a5	T	A	8: 106,083,345 (GRCm39)	L368Q	probably damaging	Het
Spef2	T	A	15: 9,647,576 (GRCm39)	I944F	possibly damaging	Het
Syne1	T	A	10: 5,206,805 (GRCm39)	H3461L	probably benign	Het
Tas2r134	A	G	2: 51,518,145 (GRCm39)	Y208C	probably benign	Het
Tasor	A	G	14: 27,193,809 (GRCm39)	E1003G	probably damaging	Het
Tm9sf3	G	A	19: 41,227,198 (GRCm39)	S291F	probably damaging	Het
Tra2a	G	A	6: 49,227,921 (GRCm39)	T69I	unknown	Het
Ube2q1	T	A	3: 89,683,898 (GRCm39)	L171Q	possibly damaging	Het
Ufd1	A	G	16: 18,636,715 (GRCm39)	T78A	probably damaging	Het
Vmn1r13	T	C	6: 57,187,587 (GRCm39)	S249P	probably damaging	Het
Wdr91	G	A	6: 34,861,258 (GRCm39)	S648L	probably benign	Het
Zfp51	T	A	17: 21,684,058 (GRCm39)	N224K	probably benign	Het

Other mutations in Cimap1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02951:Cimap1d	APN	10	79,475,811 (GRCm39)	missense	probably benign	0.29
R0241:Cimap1d	UTSW	10	79,480,564 (GRCm39)	splice site	probably null
R0499:Cimap1d	UTSW	10	79,476,099 (GRCm39)	missense	probably damaging	0.99
R1458:Cimap1d	UTSW	10	79,481,392 (GRCm39)	splice site	probably benign
R2391:Cimap1d	UTSW	10	79,481,484 (GRCm39)	missense	probably benign	0.13
R2870:Cimap1d	UTSW	10	79,481,487 (GRCm39)	missense	probably benign	0.37
R2870:Cimap1d	UTSW	10	79,481,487 (GRCm39)	missense	probably benign	0.37
R2873:Cimap1d	UTSW	10	79,481,487 (GRCm39)	missense	probably benign	0.37
R4817:Cimap1d	UTSW	10	79,475,851 (GRCm39)	missense	probably damaging	1.00
R7016:Cimap1d	UTSW	10	79,475,790 (GRCm39)	missense	probably damaging	1.00
R8057:Cimap1d	UTSW	10	79,475,835 (GRCm39)	missense	probably damaging	1.00
R8155:Cimap1d	UTSW	10	79,481,466 (GRCm39)	missense	probably benign	0.00
X0017:Cimap1d	UTSW	10	79,481,482 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ATTCGTTCTCAGAGCTCAGTGG -3'
(R):5'- ATTGAAGGTGACACCCTGTG -3'

Sequencing Primer
(F):5'- TCTCAGAGCTCAGTGGTGCAG -3'
(R):5'- TGACACCCTGTGAGCCCAG -3'

Posted On

2019-06-26