Mutagenetix > Incidental Mutation

Incidental Mutation 'R1954:Cps1'

217529

Institutional Source

Beutler Lab

Gene Symbol

Cps1

Ensembl Gene

ENSMUSG00000025991

Gene Name

carbamoyl-phosphate synthetase 1

Synonyms

CPSase I, D1Ucla3, CPS, 4732433M03Rik

MMRRC Submission

039968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67123026-67231259 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67195196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 914 (D914G)

Ref Sequence

ENSEMBL: ENSMUSP00000027144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027144]

AlphaFold

Q8C196

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027144
AA Change: D914G

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027144
Gene: ENSMUSG00000025991
AA Change: D914G

Domain	Start	End	E-Value	Type
CPSase_sm_chain	44	184	2.5e-70	SMART
Pfam:GATase	221	397	1.5e-40	PFAM
low complexity region	426	436	N/A	INTRINSIC
Pfam:ATP-grasp_4	543	724	6.8e-12	PFAM
Pfam:CPSase_L_D2	546	750	1.7e-85	PFAM
Pfam:ATP-grasp	554	722	4.9e-8	PFAM
Pfam:Dala_Dala_lig_C	561	718	1.5e-7	PFAM
CPSase_L_D3	839	962	1.18e-57	SMART
Pfam:ATP-grasp_4	1085	1264	1e-19	PFAM
Pfam:CPSase_L_D2	1088	1291	7.4e-32	PFAM
Pfam:Dala_Dala_lig_C	1095	1279	1.6e-6	PFAM
Pfam:ATP-grasp	1096	1263	2.8e-12	PFAM
MGS	1373	1465	1.53e-15	SMART

Meta Mutation Damage Score

0.9745

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

MGI Phenotype

FUNCTION: This gene encodes a protein localized to the inner mitochondrial matrix. The encoded protein plays a role in the detoxification of ammonia by catalyzing the first step in the urea cycle in which carbomyl-phosphate is synthesized from ammonia and bicarbonate. Carbamoyl-phosphate is subsequently converted to urea that is excreted by the kidneys. Deficiency of the encoded enzyme leads to an accumulation of ammonia in the blood. High levels of ammonia are toxic to the central nervous system and result in neurological disorders. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in death by 36 hours after birth and hyperammonemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,566,753 (GRCm38)		probably benign	Het
Adamts15	T	A	9: 30,910,708 (GRCm38)	M478L	probably benign	Het
Akap8l	T	A	17: 32,336,736 (GRCm38)	Y123F	possibly damaging	Het
Anapc4	T	G	5: 52,846,625 (GRCm38)		probably benign	Het
Arap3	A	G	18: 37,982,002 (GRCm38)	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,739,992 (GRCm38)	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 105,565,893 (GRCm38)	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,105,903 (GRCm38)	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,968,743 (GRCm38)	A346S	probably benign	Het
Brpf3	G	A	17: 28,806,559 (GRCm38)	S202N	probably benign	Het
Btnl4	T	C	17: 34,472,930 (GRCm38)	K233E	possibly damaging	Het
Capn7	A	G	14: 31,360,150 (GRCm38)	T438A	probably damaging	Het
Cars2	A	T	8: 11,550,286 (GRCm38)	Y68N	probably damaging	Het
Cbx2	G	T	11: 119,028,340 (GRCm38)	G244W	probably damaging	Het
Ccr4	A	T	9: 114,492,685 (GRCm38)	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,426,516 (GRCm38)		probably null	Het
Cep170	A	T	1: 176,756,384 (GRCm38)	C810S	probably benign	Het
Clp1	T	C	2: 84,724,051 (GRCm38)	D258G	probably damaging	Het
Clstn3	T	C	6: 124,459,298 (GRCm38)	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516 (GRCm38)	E1131G	probably damaging	Het
Ctnnal1	C	T	4: 56,817,242 (GRCm38)		probably benign	Het
Cyp2c38	A	G	19: 39,404,687 (GRCm38)	L312P	probably damaging	Het
Cytip	T	C	2: 58,148,253 (GRCm38)	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,852,467 (GRCm38)	T285S	probably benign	Het
Dhx8	A	G	11: 101,753,279 (GRCm38)	S842G	probably damaging	Het
Disp1	A	T	1: 183,088,543 (GRCm38)	M771K	probably damaging	Het
Dnah17	A	G	11: 118,024,731 (GRCm38)	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,900,690 (GRCm38)	F345L	probably damaging	Het
Erc1	G	T	6: 119,797,305 (GRCm38)	Q230K	probably damaging	Het
Ern1	A	T	11: 106,421,974 (GRCm38)		probably benign	Het
Espl1	T	C	15: 102,298,388 (GRCm38)	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,029,602 (GRCm38)	L533I	probably damaging	Het
Fat2	G	A	11: 55,311,084 (GRCm38)	T388I	probably benign	Het
Galnt1	T	G	18: 24,271,774 (GRCm38)		probably benign	Het
Glmn	A	G	5: 107,572,377 (GRCm38)	F212S	probably damaging	Het
Gm3604	A	T	13: 62,369,211 (GRCm38)	N444K	probably damaging	Het
Gm5434	A	G	12: 36,090,596 (GRCm38)		probably benign	Het
Gm8989	A	C	7: 106,329,681 (GRCm38)	D336E	probably damaging	Het
H2-M10.3	T	C	17: 36,367,498 (GRCm38)	D145G	probably damaging	Het
Hic2	T	A	16: 17,258,993 (GRCm38)	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,001,844 (GRCm38)	E1003D	probably damaging	Het
Hist1h1c	T	C	13: 23,739,402 (GRCm38)	V185A	unknown	Het
Hist1h1d	A	G	13: 23,555,516 (GRCm38)		probably benign	Het
Hsfy2	C	T	1: 56,637,183 (GRCm38)	C65Y	probably benign	Het
Inpp1	T	C	1: 52,794,629 (GRCm38)	T103A	probably damaging	Het
Ints5	T	C	19: 8,894,896 (GRCm38)	V73A	probably damaging	Het
Iqch	A	T	9: 63,548,016 (GRCm38)	D166E	probably benign	Het
Klhdc3	A	T	17: 46,677,975 (GRCm38)	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,953,848 (GRCm38)		probably benign	Het
Klrb1	T	C	6: 128,723,073 (GRCm38)		probably null	Het
Krt71	C	A	15: 101,735,466 (GRCm38)	G446*	probably null	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,978,940 (GRCm38)	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,858,441 (GRCm38)	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,486,708 (GRCm38)		probably benign	Het
Mlst8	A	T	17: 24,477,221 (GRCm38)	I178N	probably damaging	Het
Mon2	A	T	10: 123,038,483 (GRCm38)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,137,490 (GRCm38)	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,279,883 (GRCm38)	M295K	probably benign	Het
Mrps5	T	A	2: 127,596,897 (GRCm38)		probably null	Het
Mtor	C	A	4: 148,468,273 (GRCm38)	S744R	probably damaging	Het
Myo3a	T	A	2: 22,241,226 (GRCm38)	D61E	probably damaging	Het
Nars	C	T	18: 64,500,564 (GRCm38)	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,406,821 (GRCm38)	V1521A	possibly damaging	Het
Ndor1	T	C	2: 25,255,293 (GRCm38)	E20G	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213 (GRCm38)		probably benign	Het
Notch3	G	T	17: 32,166,678 (GRCm38)	A39E	probably benign	Het
Olfr1336	G	T	7: 6,461,145 (GRCm38)	W212L	probably benign	Het
Olfr237-ps1	T	C	6: 43,153,977 (GRCm38)	I224T	possibly damaging	Het
Olfr345	A	G	2: 36,640,215 (GRCm38)	M59V	possibly damaging	Het
Otud3	T	C	4: 138,898,032 (GRCm38)	K237R	possibly damaging	Het
Papola	T	A	12: 105,828,273 (GRCm38)		probably null	Het
Parl	T	A	16: 20,302,327 (GRCm38)	M1L	possibly damaging	Het
Parp14	G	T	16: 35,858,301 (GRCm38)	N432K	probably benign	Het
Patz1	T	G	11: 3,291,088 (GRCm38)	S159A	probably damaging	Het
Prpf6	T	G	2: 181,632,077 (GRCm38)	M338R	probably benign	Het
Psd3	A	G	8: 67,697,075 (GRCm38)	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,386,325 (GRCm38)	N1422K	probably damaging	Het
Rab19	A	T	6: 39,384,082 (GRCm38)	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,922,333 (GRCm38)	K34E	possibly damaging	Het
Skint8	T	A	4: 111,950,081 (GRCm38)	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,600,241 (GRCm38)		probably null	Het
Slc26a3	T	C	12: 31,450,816 (GRCm38)	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,835,174 (GRCm38)	S323T	possibly damaging	Het
Sorbs2	G	T	8: 45,745,738 (GRCm38)	R20L	probably benign	Het
Stk32a	A	T	18: 43,212,025 (GRCm38)	D13V	probably benign	Het
Tab2	T	C	10: 7,919,330 (GRCm38)	T463A	probably damaging	Het
Tenm2	T	A	11: 36,047,547 (GRCm38)	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 68,840,961 (GRCm38)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,484,487 (GRCm38)	H129N	probably benign	Het
Tmem242	T	C	17: 5,439,579 (GRCm38)	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,285,123 (GRCm38)	M1K	probably null	Het
Uckl1	T	C	2: 181,570,527 (GRCm38)	Q332R	probably benign	Het
Unc5b	T	C	10: 60,769,265 (GRCm38)		probably benign	Het
Vmn2r114	T	C	17: 23,311,112 (GRCm38)	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,396,056 (GRCm38)	S630C	probably damaging	Het
Wdr25	T	A	12: 108,898,541 (GRCm38)	V204E	probably damaging	Het
Xab2	T	A	8: 3,616,094 (GRCm38)	D227V	probably damaging	Het
Zfp286	A	G	11: 62,783,708 (GRCm38)	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,474,821 (GRCm38)	D22G	probably damaging	Het

Other mutations in Cps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:Cps1	APN	1	67,152,380 (GRCm38)	splice site	probably benign
IGL00897:Cps1	APN	1	67,215,564 (GRCm38)	missense	probably benign	0.08
IGL00928:Cps1	APN	1	67,123,234 (GRCm38)	missense	probably benign
IGL01063:Cps1	APN	1	67,195,166 (GRCm38)	missense	possibly damaging	0.91
IGL01081:Cps1	APN	1	67,206,824 (GRCm38)	missense	probably damaging	1.00
IGL01361:Cps1	APN	1	67,195,145 (GRCm38)	missense	probably benign	0.03
IGL01396:Cps1	APN	1	67,157,786 (GRCm38)	missense	probably damaging	1.00
IGL01516:Cps1	APN	1	67,230,284 (GRCm38)	missense	probably damaging	0.99
IGL01695:Cps1	APN	1	67,197,035 (GRCm38)	missense	probably benign
IGL02022:Cps1	APN	1	67,172,872 (GRCm38)	splice site	probably benign
IGL02032:Cps1	APN	1	67,230,315 (GRCm38)	missense	probably benign	0.03
IGL02049:Cps1	APN	1	67,143,954 (GRCm38)	missense	possibly damaging	0.68
IGL02197:Cps1	APN	1	67,157,764 (GRCm38)	missense	probably benign
IGL02217:Cps1	APN	1	67,174,382 (GRCm38)	missense	probably benign	0.06
IGL02555:Cps1	APN	1	67,214,021 (GRCm38)	missense	probably benign	0.06
IGL02570:Cps1	APN	1	67,148,703 (GRCm38)	splice site	probably benign
IGL02633:Cps1	APN	1	67,123,237 (GRCm38)	missense	probably benign
IGL02711:Cps1	APN	1	67,212,517 (GRCm38)	splice site	probably benign
IGL02737:Cps1	APN	1	67,148,774 (GRCm38)	missense	probably benign	0.35
IGL03030:Cps1	APN	1	67,142,921 (GRCm38)	missense	probably damaging	1.00
IGL03255:Cps1	APN	1	67,145,801 (GRCm38)	nonsense	probably null
Madman	UTSW	1	67,160,871 (GRCm38)	missense	probably damaging	0.96
maniac	UTSW	1	67,157,878 (GRCm38)	critical splice donor site	probably null
R0109:Cps1	UTSW	1	67,229,418 (GRCm38)	missense	possibly damaging	0.82
R0109:Cps1	UTSW	1	67,229,418 (GRCm38)	missense	possibly damaging	0.82
R0140:Cps1	UTSW	1	67,180,116 (GRCm38)	missense	probably benign
R0318:Cps1	UTSW	1	67,177,014 (GRCm38)	missense	probably damaging	0.99
R0486:Cps1	UTSW	1	67,165,392 (GRCm38)	missense	probably damaging	1.00
R0488:Cps1	UTSW	1	67,148,808 (GRCm38)	splice site	probably benign
R0492:Cps1	UTSW	1	67,157,836 (GRCm38)	missense	probably damaging	1.00
R0521:Cps1	UTSW	1	67,215,564 (GRCm38)	missense	probably benign	0.02
R0534:Cps1	UTSW	1	67,143,900 (GRCm38)	missense	probably benign	0.06
R0565:Cps1	UTSW	1	67,166,449 (GRCm38)	missense	possibly damaging	0.57
R0609:Cps1	UTSW	1	67,172,802 (GRCm38)	missense	probably damaging	1.00
R0612:Cps1	UTSW	1	67,139,770 (GRCm38)	missense	probably benign	0.01
R1185:Cps1	UTSW	1	67,195,199 (GRCm38)	missense	probably benign	0.00
R1185:Cps1	UTSW	1	67,195,199 (GRCm38)	missense	probably benign	0.00
R1185:Cps1	UTSW	1	67,195,199 (GRCm38)	missense	probably benign	0.00
R1220:Cps1	UTSW	1	67,204,703 (GRCm38)	critical splice donor site	probably null
R1321:Cps1	UTSW	1	67,143,019 (GRCm38)	splice site	probably benign
R1343:Cps1	UTSW	1	67,209,609 (GRCm38)	missense	probably damaging	1.00
R1373:Cps1	UTSW	1	67,229,424 (GRCm38)	missense	possibly damaging	0.89
R1374:Cps1	UTSW	1	67,230,281 (GRCm38)	missense	probably damaging	0.97
R1481:Cps1	UTSW	1	67,143,882 (GRCm38)	missense	probably damaging	0.99
R1711:Cps1	UTSW	1	67,168,374 (GRCm38)	splice site	probably null
R1712:Cps1	UTSW	1	67,230,281 (GRCm38)	missense	probably damaging	0.97
R1774:Cps1	UTSW	1	67,170,882 (GRCm38)	missense	possibly damaging	0.94
R1799:Cps1	UTSW	1	67,209,642 (GRCm38)	missense	probably damaging	1.00
R2074:Cps1	UTSW	1	67,204,638 (GRCm38)	missense	probably benign	0.21
R2078:Cps1	UTSW	1	67,195,265 (GRCm38)	missense	possibly damaging	0.74
R2078:Cps1	UTSW	1	67,157,806 (GRCm38)	missense	probably damaging	1.00
R2111:Cps1	UTSW	1	67,176,980 (GRCm38)	missense	probably benign	0.01
R2112:Cps1	UTSW	1	67,176,980 (GRCm38)	missense	probably benign	0.01
R2146:Cps1	UTSW	1	67,152,379 (GRCm38)	splice site	probably benign
R2355:Cps1	UTSW	1	67,156,224 (GRCm38)	missense	probably damaging	1.00
R2375:Cps1	UTSW	1	67,217,860 (GRCm38)	missense	probably benign	0.00
R2860:Cps1	UTSW	1	67,166,375 (GRCm38)	missense	probably benign	0.44
R2861:Cps1	UTSW	1	67,166,375 (GRCm38)	missense	probably benign	0.44
R2979:Cps1	UTSW	1	67,204,704 (GRCm38)	critical splice donor site	probably null
R3427:Cps1	UTSW	1	67,174,494 (GRCm38)	missense	probably damaging	1.00
R3833:Cps1	UTSW	1	67,139,787 (GRCm38)	missense	probably damaging	1.00
R3857:Cps1	UTSW	1	67,168,278 (GRCm38)	missense	probably damaging	1.00
R3858:Cps1	UTSW	1	67,168,278 (GRCm38)	missense	probably damaging	1.00
R3859:Cps1	UTSW	1	67,168,278 (GRCm38)	missense	probably damaging	1.00
R3886:Cps1	UTSW	1	67,165,500 (GRCm38)	missense	possibly damaging	0.83
R3887:Cps1	UTSW	1	67,165,500 (GRCm38)	missense	possibly damaging	0.83
R3888:Cps1	UTSW	1	67,165,500 (GRCm38)	missense	possibly damaging	0.83
R3889:Cps1	UTSW	1	67,165,500 (GRCm38)	missense	possibly damaging	0.83
R4386:Cps1	UTSW	1	67,170,995 (GRCm38)	critical splice donor site	probably null
R4497:Cps1	UTSW	1	67,205,199 (GRCm38)	missense	probably null	1.00
R4671:Cps1	UTSW	1	67,196,560 (GRCm38)	missense	probably damaging	1.00
R4774:Cps1	UTSW	1	67,220,512 (GRCm38)	missense	probably damaging	0.99
R4799:Cps1	UTSW	1	67,142,986 (GRCm38)	missense	probably damaging	0.96
R4853:Cps1	UTSW	1	67,156,202 (GRCm38)	missense	possibly damaging	0.51
R4884:Cps1	UTSW	1	67,177,024 (GRCm38)	missense	probably benign	0.11
R4900:Cps1	UTSW	1	67,160,904 (GRCm38)	missense	probably damaging	1.00
R4906:Cps1	UTSW	1	67,139,763 (GRCm38)	missense	probably benign	0.10
R5091:Cps1	UTSW	1	67,229,520 (GRCm38)	critical splice donor site	probably null
R5102:Cps1	UTSW	1	67,206,793 (GRCm38)	missense	probably benign	0.00
R5215:Cps1	UTSW	1	67,166,380 (GRCm38)	missense	possibly damaging	0.62
R5290:Cps1	UTSW	1	67,172,709 (GRCm38)	missense	probably benign	0.21
R5732:Cps1	UTSW	1	67,157,764 (GRCm38)	missense	probably benign	0.22
R5818:Cps1	UTSW	1	67,166,488 (GRCm38)	missense	possibly damaging	0.96
R5878:Cps1	UTSW	1	67,157,878 (GRCm38)	critical splice donor site	probably null
R6002:Cps1	UTSW	1	67,172,755 (GRCm38)	missense	possibly damaging	0.94
R6034:Cps1	UTSW	1	67,157,713 (GRCm38)	splice site	probably null
R6034:Cps1	UTSW	1	67,157,713 (GRCm38)	splice site	probably null
R6199:Cps1	UTSW	1	67,162,615 (GRCm38)	frame shift	probably null
R6310:Cps1	UTSW	1	67,142,981 (GRCm38)	missense	probably benign	0.00
R6554:Cps1	UTSW	1	67,174,469 (GRCm38)	nonsense	probably null
R6700:Cps1	UTSW	1	67,229,523 (GRCm38)	splice site	probably null
R6731:Cps1	UTSW	1	67,160,871 (GRCm38)	missense	probably damaging	0.96
R7052:Cps1	UTSW	1	67,198,410 (GRCm38)	missense	probably damaging	1.00
R7278:Cps1	UTSW	1	67,170,921 (GRCm38)	missense	probably damaging	1.00
R7313:Cps1	UTSW	1	67,198,358 (GRCm38)	missense	probably damaging	0.99
R7323:Cps1	UTSW	1	67,157,869 (GRCm38)	missense	probably benign	0.03
R7339:Cps1	UTSW	1	67,197,015 (GRCm38)	missense	possibly damaging	0.64
R7485:Cps1	UTSW	1	67,139,857 (GRCm38)	missense	probably damaging	1.00
R7505:Cps1	UTSW	1	67,180,081 (GRCm38)	missense	probably benign
R7748:Cps1	UTSW	1	67,139,806 (GRCm38)	missense	probably damaging	1.00
R7853:Cps1	UTSW	1	67,174,481 (GRCm38)	missense	possibly damaging	0.92
R8097:Cps1	UTSW	1	67,228,270 (GRCm38)	missense	probably benign	0.08
R8357:Cps1	UTSW	1	67,156,854 (GRCm38)	missense	probably damaging	1.00
R8435:Cps1	UTSW	1	67,212,430 (GRCm38)	missense	probably benign	0.07
R8457:Cps1	UTSW	1	67,156,854 (GRCm38)	missense	probably damaging	1.00
R8680:Cps1	UTSW	1	67,204,613 (GRCm38)	missense	probably damaging	1.00
R8805:Cps1	UTSW	1	67,176,951 (GRCm38)	missense	probably damaging	1.00
R8811:Cps1	UTSW	1	67,214,087 (GRCm38)	missense	probably benign	0.03
R8819:Cps1	UTSW	1	67,228,280 (GRCm38)	missense	possibly damaging	0.56
R8820:Cps1	UTSW	1	67,228,280 (GRCm38)	missense	possibly damaging	0.56
R8854:Cps1	UTSW	1	67,160,889 (GRCm38)	missense	probably damaging	1.00
R9138:Cps1	UTSW	1	67,215,410 (GRCm38)	missense	probably damaging	1.00
R9185:Cps1	UTSW	1	67,209,672 (GRCm38)	missense	probably benign	0.08
R9273:Cps1	UTSW	1	67,152,286 (GRCm38)	missense	possibly damaging	0.69
R9286:Cps1	UTSW	1	67,158,871 (GRCm38)	missense	probably damaging	0.99
R9308:Cps1	UTSW	1	67,160,959 (GRCm38)	critical splice donor site	probably null
R9326:Cps1	UTSW	1	67,209,636 (GRCm38)	missense	probably damaging	1.00
R9449:Cps1	UTSW	1	67,220,512 (GRCm38)	missense	probably damaging	0.99
R9454:Cps1	UTSW	1	67,180,152 (GRCm38)	missense	probably damaging	0.97
R9518:Cps1	UTSW	1	67,220,503 (GRCm38)	missense	probably damaging	1.00
R9564:Cps1	UTSW	1	67,158,889 (GRCm38)	missense	probably benign	0.26
R9585:Cps1	UTSW	1	67,156,182 (GRCm38)	missense	probably damaging	0.99
R9618:Cps1	UTSW	1	67,157,816 (GRCm38)	missense	possibly damaging	0.87
R9641:Cps1	UTSW	1	67,195,183 (GRCm38)	missense	probably benign	0.03
R9650:Cps1	UTSW	1	67,215,477 (GRCm38)	missense
R9668:Cps1	UTSW	1	67,174,490 (GRCm38)	missense	probably benign	0.24
R9726:Cps1	UTSW	1	67,156,236 (GRCm38)	missense	probably benign	0.39
X0024:Cps1	UTSW	1	67,123,247 (GRCm38)	missense	probably benign
Z1176:Cps1	UTSW	1	67,148,719 (GRCm38)	frame shift	probably null
Z1176:Cps1	UTSW	1	67,123,268 (GRCm38)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CCTCCCAATGGCTTGAAGAATATG -3'
(R):5'- GGAGTCGTCTTCTAAGCATGC -3'

Sequencing Primer
(F):5'- TGTGAATTTTTGAAGGGAAGAGCC -3'
(R):5'- CGTCTTCTAAGCATGCTTTGTTAATG -3'

Posted On

2014-08-01