Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Psap'

351946

Institutional Source

Beutler Lab

Gene Symbol

Psap

Ensembl Gene

ENSMUSG00000004207

Gene Name

prosaposin

Synonyms

SGP-1

MMRRC Submission

041924-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60113449-60138376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60136324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 486 (D486G)

Ref Sequence

ENSEMBL: ENSMUSP00000137476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004316] [ENSMUST00000073242] [ENSMUST00000105461] [ENSMUST00000105462] [ENSMUST00000105463] [ENSMUST00000105464] [ENSMUST00000105465] [ENSMUST00000165878] [ENSMUST00000177779] [ENSMUST00000179238]

AlphaFold

Q61207

Predicted Effect

probably benign
Transcript: ENSMUST00000004316
AA Change: D485G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
AA Change: D485G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SAPA	21	54	1.4e-18	SMART
SapB	61	138	1.87e-27	SMART
SapB	195	272	1.2e-16	SMART
SapB	314	389	2.07e-20	SMART
low complexity region	412	430	N/A	INTRINSIC
SapB	439	514	3.84e-24	SMART
SAPA	523	556	3.19e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073242

SMART Domains

Protein: ENSMUSP00000072973
Gene: ENSMUSG00000012819

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	55	130	5.15e-13	SMART
CA	154	234	3.19e-18	SMART
CA	258	346	2.03e-11	SMART
CA	371	458	8.11e-11	SMART
CA	482	559	1.04e-22	SMART
CA	583	669	3.55e-25	SMART
CA	693	776	2.04e-25	SMART
CA	800	888	5.03e-16	SMART
CA	912	993	1.05e-27	SMART
CA	1017	1100	1.99e-19	SMART
CA	1124	1206	6.94e-19	SMART
CA	1231	1311	1.99e-19	SMART
CA	1335	1415	1.21e-18	SMART
CA	1440	1524	2.38e-26	SMART
CA	1549	1631	6.27e-26	SMART
CA	1656	1741	6.99e-24	SMART
CA	1765	1848	3.49e-24	SMART
CA	1872	1956	2.78e-18	SMART
CA	1984	2066	5.6e-14	SMART
CA	2090	2171	2.59e-27	SMART
CA	2195	2290	2.87e-11	SMART
CA	2317	2399	1.01e-20	SMART
CA	2423	2506	1.09e-25	SMART
CA	2530	2608	7.91e-23	SMART
CA	2634	2719	1.06e-23	SMART
CA	2750	2843	2e-10	SMART
Blast:CA	2867	2956	4e-51	BLAST
transmembrane domain	3067	3089	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105461

SMART Domains

Protein: ENSMUSP00000101101
Gene: ENSMUSG00000012819

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	55	130	5.15e-13	SMART
CA	154	234	3.19e-18	SMART
CA	258	346	2.03e-11	SMART
CA	371	458	1.25e-11	SMART
CA	482	559	1.04e-22	SMART
CA	583	669	3.55e-25	SMART
CA	693	776	2.04e-25	SMART
CA	800	888	5.03e-16	SMART
CA	912	993	1.05e-27	SMART
CA	1017	1100	1.99e-19	SMART
CA	1124	1206	6.94e-19	SMART
CA	1231	1311	1.99e-19	SMART
CA	1335	1416	5.26e-19	SMART
CA	1441	1525	2.38e-26	SMART
CA	1550	1632	6.27e-26	SMART
CA	1657	1742	6.99e-24	SMART
CA	1766	1849	3.49e-24	SMART
CA	1873	1957	2.78e-18	SMART
CA	1985	2067	5.6e-14	SMART
CA	2091	2172	2.59e-27	SMART
CA	2196	2291	2.87e-11	SMART
CA	2318	2400	1.01e-20	SMART
CA	2424	2507	1.09e-25	SMART
CA	2531	2609	7.91e-23	SMART
CA	2635	2720	1.06e-23	SMART
CA	2751	2844	2e-10	SMART
Blast:CA	2868	2957	4e-51	BLAST
transmembrane domain	3068	3090	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105462

SMART Domains

Protein: ENSMUSP00000101102
Gene: ENSMUSG00000012819

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	55	130	5.15e-13	SMART
CA	154	234	3.19e-18	SMART
CA	261	349	2.03e-11	SMART
CA	374	461	8.11e-11	SMART
CA	485	562	1.04e-22	SMART
CA	586	672	3.55e-25	SMART
CA	696	779	2.04e-25	SMART
CA	803	891	5.03e-16	SMART
CA	915	996	1.05e-27	SMART
CA	1020	1103	1.99e-19	SMART
CA	1127	1209	6.94e-19	SMART
CA	1234	1314	1.99e-19	SMART
CA	1338	1418	1.21e-18	SMART
CA	1443	1527	2.38e-26	SMART
CA	1552	1634	6.27e-26	SMART
CA	1659	1744	6.99e-24	SMART
CA	1768	1851	3.49e-24	SMART
CA	1875	1959	2.78e-18	SMART
CA	1987	2069	5.6e-14	SMART
CA	2093	2174	2.59e-27	SMART
CA	2198	2293	2.87e-11	SMART
CA	2320	2402	1.01e-20	SMART
CA	2426	2509	1.09e-25	SMART
CA	2533	2611	7.91e-23	SMART
CA	2637	2722	1.06e-23	SMART
CA	2753	2846	2e-10	SMART
Blast:CA	2870	2959	4e-51	BLAST
transmembrane domain	3070	3092	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105463

SMART Domains

Protein: ENSMUSP00000101103
Gene: ENSMUSG00000012819

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	55	130	5.15e-13	SMART
CA	154	234	3.19e-18	SMART
CA	258	346	2.03e-11	SMART
CA	371	458	1.25e-11	SMART
CA	482	559	1.04e-22	SMART
CA	583	669	3.55e-25	SMART
CA	693	776	2.04e-25	SMART
CA	800	888	5.03e-16	SMART
CA	912	993	1.05e-27	SMART
CA	1017	1100	1.99e-19	SMART
CA	1124	1206	6.94e-19	SMART
CA	1231	1311	1.99e-19	SMART
CA	1335	1416	5.26e-19	SMART
CA	1441	1525	2.38e-26	SMART
CA	1550	1632	6.27e-26	SMART
CA	1657	1742	6.99e-24	SMART
CA	1766	1849	3.49e-24	SMART
CA	1873	1957	2.78e-18	SMART
CA	1985	2067	5.6e-14	SMART
CA	2091	2172	2.59e-27	SMART
CA	2196	2291	2.87e-11	SMART
CA	2318	2400	1.01e-20	SMART
CA	2424	2507	1.09e-25	SMART
CA	2531	2609	7.91e-23	SMART
CA	2635	2720	1.06e-23	SMART
CA	2751	2844	2e-10	SMART
Blast:CA	2868	2957	4e-51	BLAST
transmembrane domain	3068	3090	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105464

SMART Domains

Protein: ENSMUSP00000101104
Gene: ENSMUSG00000012819

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CA	55	130	5.15e-13	SMART
CA	154	234	3.19e-18	SMART
CA	258	346	2.03e-11	SMART
CA	371	456	3.58e-12	SMART
CA	480	557	1.04e-22	SMART
CA	581	667	3.55e-25	SMART
CA	691	774	2.04e-25	SMART
CA	798	886	5.03e-16	SMART
CA	910	991	1.05e-27	SMART
CA	1015	1098	1.99e-19	SMART
CA	1122	1204	6.94e-19	SMART
CA	1229	1309	1.99e-19	SMART
CA	1333	1414	5.26e-19	SMART
CA	1439	1523	2.38e-26	SMART
CA	1548	1630	6.27e-26	SMART
CA	1655	1740	6.99e-24	SMART
CA	1764	1847	3.49e-24	SMART
CA	1871	1955	2.78e-18	SMART
CA	1983	2065	5.6e-14	SMART
CA	2089	2170	2.59e-27	SMART
CA	2194	2289	2.87e-11	SMART
CA	2316	2398	1.01e-20	SMART
CA	2422	2505	1.09e-25	SMART
CA	2529	2607	7.91e-23	SMART
CA	2633	2718	1.06e-23	SMART
CA	2749	2842	2e-10	SMART
Blast:CA	2866	2955	3e-51	BLAST
transmembrane domain	3066	3088	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105465
AA Change: D483G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
AA Change: D483G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SAPA	21	54	1.4e-18	SMART
SapB	61	138	1.87e-27	SMART
SapB	195	270	2.76e-16	SMART
SapB	312	387	2.07e-20	SMART
low complexity region	410	428	N/A	INTRINSIC
SapB	437	512	3.84e-24	SMART
SAPA	521	554	3.19e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165878
AA Change: D480G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126407
Gene: ENSMUSG00000004207
AA Change: D480G

Domain	Start	End	E-Value	Type
SAPA	18	51	1.4e-18	SMART
SapB	58	135	1.87e-27	SMART
SapB	192	267	2.76e-16	SMART
SapB	309	384	2.07e-20	SMART
low complexity region	407	425	N/A	INTRINSIC
SapB	434	509	3.84e-24	SMART
SAPA	518	551	3.19e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177779
AA Change: D486G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
AA Change: D486G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SAPA	21	54	1.4e-18	SMART
SapB	61	138	1.87e-27	SMART
SapB	195	273	2.37e-15	SMART
SapB	315	390	2.07e-20	SMART
low complexity region	413	431	N/A	INTRINSIC
SapB	440	515	3.84e-24	SMART
SAPA	524	557	3.19e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179238
AA Change: D486G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
AA Change: D486G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
SAPA	21	54	1.4e-18	SMART
SapB	61	138	1.87e-27	SMART
SapB	195	273	8.5e-17	SMART
SapB	315	390	2.07e-20	SMART
low complexity region	413	431	N/A	INTRINSIC
SapB	440	515	3.84e-24	SMART
SAPA	524	557	3.19e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128249

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135638

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a multifunctional glycoprotein that plays a role in the intracellular metabolism of various sphingolipids or secreted into the plasma, milk or cerebrospinal fluid. The encoded protein undergoes proteolytic processing to generate four different polypeptides known as saposin A, B, C or D, that are required for the hydrolysis of certain sphingolipids by lysosomal hydrolases. Alternately, the encoded protein is secreted into body fluids where it exhibits neurotrophic and myelinotrophic activities. A complete lack of the encoded protein is fatal to mice either at the neonatal stage or within the first month due to severe leukodystrophy and sphingolipid accumulation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature saposins. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney. [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
2410137M14Rik	G	A	17: 37,289,794 (GRCm39)	S12L	probably benign	Het
Abce1	A	G	8: 80,414,115 (GRCm39)	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,578 (GRCm39)	N1278K	probably benign	Het
Adipor1	T	A	1: 134,352,643 (GRCm39)	I138N	probably damaging	Het
Aox1	C	T	1: 58,343,756 (GRCm39)	Q480*	probably null	Het
Arhgef38	C	T	3: 132,846,533 (GRCm39)		probably null	Het
Atmin	A	G	8: 117,684,698 (GRCm39)	D786G	probably damaging	Het
Bltp3a	G	T	17: 28,112,477 (GRCm39)	W1222L	possibly damaging	Het
Capn1	A	T	19: 6,061,045 (GRCm39)	N253K	probably benign	Het
Cdh8	T	C	8: 99,751,534 (GRCm39)	T728A	possibly damaging	Het
Celsr1	A	G	15: 85,914,695 (GRCm39)	S1093P	probably damaging	Het
Cep135	C	A	5: 76,764,701 (GRCm39)	P560T	probably benign	Het
Chfr	C	T	5: 110,292,733 (GRCm39)	Q167*	probably null	Het
Chrna4	A	G	2: 180,679,286 (GRCm39)	S54P	probably damaging	Het
Cntln	A	G	4: 84,889,453 (GRCm39)	N312S	probably benign	Het
Cntn6	A	G	6: 104,705,245 (GRCm39)	E154G	probably benign	Het
Col6a6	T	A	9: 105,644,541 (GRCm39)	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,949,466 (GRCm39)	S61P	probably damaging	Het
Cpvl	C	T	6: 53,908,918 (GRCm39)	E282K	probably benign	Het
Cryba2	C	T	1: 74,929,207 (GRCm39)	D179N	probably benign	Het
Daglb	A	T	5: 143,489,104 (GRCm39)	R654W	probably damaging	Het
Dennd3	A	G	15: 73,442,709 (GRCm39)	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,582,390 (GRCm39)	E405G	probably damaging	Het
Dnah10	T	C	5: 124,905,536 (GRCm39)	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,072,156 (GRCm39)	S238P	probably damaging	Het
Duox1	C	T	2: 122,149,956 (GRCm39)	P116S	probably benign	Het
Ebf1	A	G	11: 44,882,384 (GRCm39)	N447D	probably damaging	Het
Epg5	A	G	18: 78,056,079 (GRCm39)	N1751S	probably benign	Het
Exoc6	A	G	19: 37,558,953 (GRCm39)	D75G	probably damaging	Het
Extl2	T	A	3: 115,817,856 (GRCm39)	I70N	probably damaging	Het
Fanca	T	C	8: 123,995,711 (GRCm39)	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,736,830 (GRCm39)		probably null	Het
Foxa3	G	T	7: 18,748,297 (GRCm39)	C275*	probably null	Het
Foxred1	C	T	9: 35,122,151 (GRCm39)		probably benign	Het
Galr2	A	G	11: 116,174,455 (GRCm39)	T362A	probably benign	Het
Garem2	C	A	5: 30,319,665 (GRCm39)	R376S	probably damaging	Het
Garre1	T	C	7: 33,984,198 (GRCm39)	M142V	probably damaging	Het
Gatc	T	A	5: 115,473,606 (GRCm39)	N111I	probably benign	Het
Gjb4	C	A	4: 127,245,571 (GRCm39)	K123N	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gtdc1	T	C	2: 44,481,937 (GRCm39)	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,412,756 (GRCm39)	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,329,632 (GRCm39)	I96V	probably benign	Het
Homer1	T	A	13: 93,538,667 (GRCm39)	I170N	probably damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Hoxb9	A	G	11: 96,165,657 (GRCm39)	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,489,573 (GRCm39)	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Lsm11	A	G	11: 45,824,640 (GRCm39)	S296P	probably damaging	Het
Macrod2	T	C	2: 142,059,519 (GRCm39)	L265P	probably damaging	Het
Mcu	G	A	10: 59,292,521 (GRCm39)	L53F	probably damaging	Het
Mpv17l2	A	G	8: 71,213,061 (GRCm39)	V104A	possibly damaging	Het
Myh10	G	A	11: 68,692,556 (GRCm39)		probably null	Het
Nemf	T	C	12: 69,359,054 (GRCm39)	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,407,153 (GRCm39)	S1395N	probably damaging	Het
Niban3	G	T	8: 72,056,469 (GRCm39)	E390*	probably null	Het
Nlrp2	T	A	7: 5,322,188 (GRCm39)	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,036,205 (GRCm39)	L686*	probably null	Het
Nudt12os	T	A	17: 59,331,546 (GRCm39)		noncoding transcript	Het
Or10ag57	T	A	2: 87,218,220 (GRCm39)	I57K	probably damaging	Het
Or10j5	G	A	1: 172,785,157 (GRCm39)	S265N	probably benign	Het
Or2h1b	A	T	17: 37,462,270 (GRCm39)	S44T	possibly damaging	Het
Or5ac23	A	G	16: 59,149,573 (GRCm39)	Y100H	possibly damaging	Het
Or5k16	T	C	16: 58,736,947 (GRCm39)	D19G	probably benign	Het
Or8g27	T	A	9: 39,129,142 (GRCm39)	M163K	probably damaging	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Pde7b	A	C	10: 20,314,496 (GRCm39)	D203E	probably damaging	Het
Phkg2	T	A	7: 127,177,156 (GRCm39)	I94N	possibly damaging	Het
Pik3r2	G	A	8: 71,221,503 (GRCm39)	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,125,540 (GRCm39)	H68L	possibly damaging	Het
Prcd	A	G	11: 116,558,990 (GRCm39)		probably benign	Het
Prune2	C	T	19: 17,097,552 (GRCm39)	R1019*	probably null	Het
Purb	A	T	11: 6,425,615 (GRCm39)	V91E	probably damaging	Het
Recql	C	A	6: 142,322,567 (GRCm39)	V112F	probably damaging	Het
Rptor	A	T	11: 119,634,708 (GRCm39)	I175F	probably damaging	Het
Sbf1	C	T	15: 89,179,449 (GRCm39)	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,812,957 (GRCm39)	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,686,700 (GRCm39)	N22K	possibly damaging	Het
Sorl1	A	T	9: 41,915,347 (GRCm39)	M1294K	probably damaging	Het
Sp6	C	A	11: 96,912,701 (GRCm39)	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408 (GRCm39)		probably benign	Het
Spmip4	G	T	6: 50,572,808 (GRCm39)	T35K	possibly damaging	Het
Spon1	T	A	7: 113,628,204 (GRCm39)	M320K	probably benign	Het
Tceanc2	A	T	4: 107,022,757 (GRCm39)	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,313 (GRCm39)	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,012 (GRCm39)	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,674,270 (GRCm39)		probably null	Het
Tmprss11d	T	C	5: 86,457,260 (GRCm39)	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,574,953 (GRCm39)	V65D	probably damaging	Het
Trpm1	G	T	7: 63,852,782 (GRCm39)	L65F	probably damaging	Het
Tyk2	C	T	9: 21,025,503 (GRCm39)	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,452,297 (GRCm39)	Y102F	probably damaging	Het
Uckl1	A	T	2: 181,216,661 (GRCm39)	S95T	possibly damaging	Het
Vcan	C	A	13: 89,828,053 (GRCm39)	W2171L	probably damaging	Het
Vinac1	T	C	2: 128,880,150 (GRCm39)	H592R	probably benign	Het
Vmn1r64	T	C	7: 5,887,357 (GRCm39)	N62S	probably damaging	Het
Vmn2r67	T	C	7: 84,799,831 (GRCm39)	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,690 (GRCm39)	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,570,436 (GRCm39)	R216H	probably damaging	Het

Other mutations in Psap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Psap	APN	10	60,128,316 (GRCm39)	missense	probably damaging	1.00
IGL01100:Psap	APN	10	60,135,708 (GRCm39)	missense	probably benign	0.03
IGL01122:Psap	APN	10	60,135,253 (GRCm39)	missense	probably benign	0.04
IGL02544:Psap	APN	10	60,136,405 (GRCm39)	splice site	probably benign
twerk	UTSW	10	60,136,630 (GRCm39)	missense	probably damaging	1.00
R0591:Psap	UTSW	10	60,136,634 (GRCm39)	missense	possibly damaging	0.65
R0624:Psap	UTSW	10	60,135,345 (GRCm39)	splice site	probably benign
R1018:Psap	UTSW	10	60,136,590 (GRCm39)	missense	probably damaging	1.00
R1896:Psap	UTSW	10	60,130,826 (GRCm39)	nonsense	probably null
R3161:Psap	UTSW	10	60,113,575 (GRCm39)	missense	possibly damaging	0.95
R3162:Psap	UTSW	10	60,113,575 (GRCm39)	missense	possibly damaging	0.95
R3162:Psap	UTSW	10	60,113,575 (GRCm39)	missense	possibly damaging	0.95
R3615:Psap	UTSW	10	60,130,383 (GRCm39)	missense	probably benign	0.06
R3616:Psap	UTSW	10	60,130,383 (GRCm39)	missense	probably benign	0.06
R4622:Psap	UTSW	10	60,136,630 (GRCm39)	missense	probably damaging	1.00
R4623:Psap	UTSW	10	60,136,630 (GRCm39)	missense	probably damaging	1.00
R5131:Psap	UTSW	10	60,135,736 (GRCm39)	missense	possibly damaging	0.72
R5203:Psap	UTSW	10	60,130,755 (GRCm39)	missense	probably damaging	1.00
R5251:Psap	UTSW	10	60,137,479 (GRCm39)	missense	probably damaging	0.99
R5511:Psap	UTSW	10	60,134,959 (GRCm39)	missense	possibly damaging	0.51
R5764:Psap	UTSW	10	60,129,186 (GRCm39)	missense	probably benign	0.18
R6207:Psap	UTSW	10	60,136,317 (GRCm39)	missense	probably damaging	1.00
R7003:Psap	UTSW	10	60,135,276 (GRCm39)	missense	probably damaging	1.00
R7494:Psap	UTSW	10	60,135,275 (GRCm39)	missense	probably benign	0.00
R7525:Psap	UTSW	10	60,135,253 (GRCm39)	missense	probably benign	0.04
R7711:Psap	UTSW	10	60,135,634 (GRCm39)	missense	probably damaging	0.96
R8252:Psap	UTSW	10	60,113,511 (GRCm39)	start gained	probably benign
R8894:Psap	UTSW	10	60,135,736 (GRCm39)	missense	possibly damaging	0.72
R9062:Psap	UTSW	10	60,131,738 (GRCm39)	missense	possibly damaging	0.49
R9756:Psap	UTSW	10	60,130,784 (GRCm39)	missense	possibly damaging	0.70
X0019:Psap	UTSW	10	60,135,694 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CGTGTCCGTTCACTGCTAATG -3'
(R):5'- TTCAGAGCTGAGACCGAAGC -3'

Sequencing Primer
(F):5'- CACTGCTAATGTTCCAGTGTG -3'
(R):5'- GAGCTGAGACCGAAGCACTTC -3'

Posted On

2015-10-08