Mutagenetix > Incidental Mutation

Incidental Mutation 'R4369:Golgb1'

325926

Institutional Source

Beutler Lab

Gene Symbol

Golgb1

Ensembl Gene

ENSMUSG00000034243

Gene Name

golgi autoantigen, golgin subfamily b, macrogolgin 1

Synonyms

Giantin, C130074L01Rik, F730017E11Rik, Gm6840, 6330407A06Rik

MMRRC Submission

041116-MU

Accession Numbers

Genbank: NM_030035.1

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R4369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36875140-36933085 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36916907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2172 (E2172G)

Ref Sequence

ENSEMBL: ENSMUSP00000110460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039855] [ENSMUST00000114812]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000039855
AA Change: E2213G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045239
Gene: ENSMUSG00000034243
AA Change: E2213G

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	7.47e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
coiled coil region	130	219	N/A	INTRINSIC
low complexity region	491	512	N/A	INTRINSIC
internal_repeat_3	519	558	7.47e-6	PROSPERO
coiled coil region	563	594	N/A	INTRINSIC
internal_repeat_4	627	661	3.38e-5	PROSPERO
coiled coil region	679	1121	N/A	INTRINSIC
coiled coil region	1153	1240	N/A	INTRINSIC
internal_repeat_4	1253	1288	3.38e-5	PROSPERO
low complexity region	1300	1314	N/A	INTRINSIC
internal_repeat_1	1321	1352	3.51e-6	PROSPERO
low complexity region	1357	1369	N/A	INTRINSIC
coiled coil region	1402	1755	N/A	INTRINSIC
internal_repeat_2	1760	1798	7.47e-6	PROSPERO
internal_repeat_3	1761	1804	7.47e-6	PROSPERO
coiled coil region	1818	2034	N/A	INTRINSIC
low complexity region	2291	2306	N/A	INTRINSIC
internal_repeat_1	2351	2382	3.51e-6	PROSPERO
low complexity region	2400	2418	N/A	INTRINSIC
low complexity region	2538	2549	N/A	INTRINSIC
coiled coil region	2775	2827	N/A	INTRINSIC
coiled coil region	2854	2943	N/A	INTRINSIC
low complexity region	2964	2976	N/A	INTRINSIC
coiled coil region	3007	3057	N/A	INTRINSIC
coiled coil region	3117	3163	N/A	INTRINSIC
transmembrane domain	3215	3237	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114812
AA Change: E2172G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110460
Gene: ENSMUSG00000034243
AA Change: E2172G

Domain	Start	End	E-Value	Type
internal_repeat_2	24	61	6.71e-6	PROSPERO
low complexity region	87	107	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
low complexity region	143	154	N/A	INTRINSIC
low complexity region	200	219	N/A	INTRINSIC
low complexity region	450	471	N/A	INTRINSIC
internal_repeat_3	478	517	6.71e-6	PROSPERO
coiled coil region	522	553	N/A	INTRINSIC
internal_repeat_4	586	620	3.05e-5	PROSPERO
coiled coil region	638	1080	N/A	INTRINSIC
coiled coil region	1112	1199	N/A	INTRINSIC
internal_repeat_4	1212	1247	3.05e-5	PROSPERO
low complexity region	1259	1273	N/A	INTRINSIC
internal_repeat_1	1280	1311	3.14e-6	PROSPERO
low complexity region	1316	1328	N/A	INTRINSIC
coiled coil region	1361	1714	N/A	INTRINSIC
internal_repeat_2	1719	1757	6.71e-6	PROSPERO
internal_repeat_3	1720	1763	6.71e-6	PROSPERO
coiled coil region	1777	1993	N/A	INTRINSIC
low complexity region	2250	2265	N/A	INTRINSIC
internal_repeat_1	2310	2341	3.14e-6	PROSPERO
low complexity region	2359	2377	N/A	INTRINSIC
low complexity region	2497	2508	N/A	INTRINSIC
coiled coil region	2734	2786	N/A	INTRINSIC
coiled coil region	2813	2902	N/A	INTRINSIC
low complexity region	2923	2935	N/A	INTRINSIC
coiled coil region	2966	3016	N/A	INTRINSIC
coiled coil region	3076	3122	N/A	INTRINSIC
transmembrane domain	3174	3196	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout affects glycosylation of glycoproteins in the extra-cellular matrix of the palatal shelves, resulting in their failure to elevate and fuse, leading to cleft palate. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, other(2) Gene trapped(5)

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	T	6: 52,179,062 (GRCm38)		probably benign	Het
A730018C14Rik	T	C	12: 112,415,614 (GRCm38)		noncoding transcript	Het
Abcc1	T	G	16: 14,460,993 (GRCm38)	S1056A	possibly damaging	Het
Akr1c19	A	T	13: 4,233,780 (GRCm38)	K4*	probably null	Het
Amph	T	A	13: 19,137,700 (GRCm38)	S516R	probably benign	Het
Apoh	T	C	11: 108,397,379 (GRCm38)	F108L	probably damaging	Het
Arg2	T	C	12: 79,149,972 (GRCm38)	S156P	probably damaging	Het
AU018091	A	T	7: 3,157,975 (GRCm38)	L582*	probably null	Het
Bckdk	C	T	7: 127,906,419 (GRCm38)	A238V	probably benign	Het
Bean1	T	A	8: 104,217,110 (GRCm38)	V275D	probably damaging	Het
Brpf3	C	T	17: 28,836,620 (GRCm38)	A1181V	probably damaging	Het
Cfb	T	C	17: 34,860,314 (GRCm38)	K287R	probably damaging	Het
Cpd	T	C	11: 76,797,711 (GRCm38)	N912D	possibly damaging	Het
Cyp4f14	T	C	17: 32,909,258 (GRCm38)	N261S	probably benign	Het
Dennd3	T	C	15: 73,540,809 (GRCm38)	I440T	probably damaging	Het
Dhx38	C	T	8: 109,553,131 (GRCm38)	V976I	probably damaging	Het
Dpep2	T	G	8: 105,985,075 (GRCm38)	L573F	probably benign	Het
Ebag9	T	C	15: 44,628,469 (GRCm38)	S86P	probably benign	Het
Epha1	T	C	6: 42,365,457 (GRCm38)	Y319C	probably damaging	Het
Eps8l3	T	C	3: 107,891,014 (GRCm38)	Y466H	possibly damaging	Het
Ercc6	A	G	14: 32,517,207 (GRCm38)	E84G	probably damaging	Het
Ffar1	A	G	7: 30,860,608 (GRCm38)	I288T	probably benign	Het
Flnb	C	T	14: 7,942,216 (GRCm38)	T2398I	probably benign	Het
Galnt15	T	C	14: 32,029,539 (GRCm38)	F16S	possibly damaging	Het
Lhx4	T	A	1: 155,704,814 (GRCm38)	H161L	probably benign	Het
Lrp1	T	C	10: 127,550,286 (GRCm38)	N3457S	possibly damaging	Het
Map7d1	A	T	4: 126,235,073 (GRCm38)	S436T	probably damaging	Het
Nmral1	T	C	16: 4,714,530 (GRCm38)	Y139C	probably damaging	Het
Noc2l	A	G	4: 156,237,396 (GRCm38)	D84G	possibly damaging	Het
Olfr447	T	A	6: 42,912,277 (GRCm38)	Y251*	probably null	Het
Olfr507	C	T	7: 108,621,889 (GRCm38)	L26F	probably benign	Het
Osbpl11	T	C	16: 33,224,648 (GRCm38)	S386P	probably damaging	Het
Papss2	A	G	19: 32,641,391 (GRCm38)	H283R	probably damaging	Het
Pcdha11	T	C	18: 37,006,743 (GRCm38)	V475A	possibly damaging	Het
Pglyrp3	T	C	3: 92,028,079 (GRCm38)	I212T	probably damaging	Het
Pkhd1l1	C	T	15: 44,505,553 (GRCm38)	R865W	probably benign	Het
Prdm9	T	C	17: 15,544,446 (GRCm38)	T691A	probably benign	Het
Rnf121	T	C	7: 102,024,106 (GRCm38)	D206G	probably benign	Het
Rnf122	T	A	8: 31,112,149 (GRCm38)	M1K	probably null	Het
Shank2	T	C	7: 144,179,781 (GRCm38)	S22P	probably damaging	Het
Smg6	C	T	11: 74,932,443 (GRCm38)	R175*	probably null	Het
Speer3	C	G	5: 13,796,380 (GRCm38)	A238G	possibly damaging	Het
Tcrg-V4	T	C	13: 19,185,397 (GRCm38)	Y104H	probably benign	Het
Thsd7a	C	T	6: 12,468,908 (GRCm38)	C557Y	probably damaging	Het
Tiam2	A	G	17: 3,413,967 (GRCm38)		probably benign	Het
Ttn	C	T	2: 76,764,001 (GRCm38)	W18788*	probably null	Het
Vmn2r82	A	T	10: 79,396,080 (GRCm38)	I638F	probably benign	Het
Zswim6	A	G	13: 107,726,694 (GRCm38)		noncoding transcript	Het

Other mutations in Golgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01394:Golgb1	APN	16	36,931,564 (GRCm38)	missense	probably damaging	1.00
IGL01717:Golgb1	APN	16	36,915,502 (GRCm38)	nonsense	probably null
IGL01965:Golgb1	APN	16	36,917,920 (GRCm38)	missense	probably damaging	1.00
IGL02128:Golgb1	APN	16	36,916,304 (GRCm38)	missense	probably damaging	1.00
IGL02268:Golgb1	APN	16	36,913,128 (GRCm38)	missense	probably benign	0.25
IGL02383:Golgb1	APN	16	36,886,200 (GRCm38)	missense	probably benign	0.01
IGL02444:Golgb1	APN	16	36,907,816 (GRCm38)	splice site	probably benign
IGL02635:Golgb1	APN	16	36,915,013 (GRCm38)	missense	probably benign	0.00
IGL02655:Golgb1	APN	16	36,918,080 (GRCm38)	missense	probably damaging	0.98
IGL02887:Golgb1	APN	16	36,925,849 (GRCm38)	missense	probably damaging	0.99
IGL02937:Golgb1	APN	16	36,916,210 (GRCm38)	missense	probably damaging	1.00
IGL02973:Golgb1	APN	16	36,912,080 (GRCm38)	missense	possibly damaging	0.92
IGL02982:Golgb1	APN	16	36,925,810 (GRCm38)	missense	probably damaging	0.98
IGL03065:Golgb1	APN	16	36,912,866 (GRCm38)	missense	probably benign	0.11
IGL03109:Golgb1	APN	16	36,915,611 (GRCm38)	missense	possibly damaging	0.93
IGL03323:Golgb1	APN	16	36,913,453 (GRCm38)	nonsense	probably null
I2288:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
I2289:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,915,503 (GRCm38)	missense	probably benign	0.00
R0071:Golgb1	UTSW	16	36,915,503 (GRCm38)	missense	probably benign	0.00
R0080:Golgb1	UTSW	16	36,898,611 (GRCm38)	missense	probably damaging	1.00
R0102:Golgb1	UTSW	16	36,875,468 (GRCm38)	intron	probably benign
R0242:Golgb1	UTSW	16	36,875,630 (GRCm38)	nonsense	probably null
R0242:Golgb1	UTSW	16	36,875,630 (GRCm38)	nonsense	probably null
R0276:Golgb1	UTSW	16	36,913,876 (GRCm38)	missense	probably damaging	1.00
R0394:Golgb1	UTSW	16	36,875,579 (GRCm38)	intron	probably benign
R0469:Golgb1	UTSW	16	36,931,635 (GRCm38)	missense	probably benign	0.41
R0522:Golgb1	UTSW	16	36,915,205 (GRCm38)	frame shift	probably null
R0575:Golgb1	UTSW	16	36,918,809 (GRCm38)	missense	probably benign
R0600:Golgb1	UTSW	16	36,916,271 (GRCm38)	missense	probably damaging	1.00
R0608:Golgb1	UTSW	16	36,916,330 (GRCm38)	nonsense	probably null
R0711:Golgb1	UTSW	16	36,918,790 (GRCm38)	missense	probably damaging	1.00
R0785:Golgb1	UTSW	16	36,898,790 (GRCm38)	missense	possibly damaging	0.95
R0893:Golgb1	UTSW	16	36,912,277 (GRCm38)	missense	possibly damaging	0.64
R1163:Golgb1	UTSW	16	36,916,126 (GRCm38)	missense	possibly damaging	0.50
R1208:Golgb1	UTSW	16	36,915,205 (GRCm38)	frame shift	probably null
R1315:Golgb1	UTSW	16	36,914,900 (GRCm38)	missense	probably benign	0.40
R1429:Golgb1	UTSW	16	36,900,563 (GRCm38)	missense	possibly damaging	0.93
R1505:Golgb1	UTSW	16	36,919,643 (GRCm38)	missense	possibly damaging	0.79
R1537:Golgb1	UTSW	16	36,898,788 (GRCm38)	missense	possibly damaging	0.89
R1610:Golgb1	UTSW	16	36,926,101 (GRCm38)	missense	probably benign	0.25
R1659:Golgb1	UTSW	16	36,887,617 (GRCm38)	missense	probably benign	0.01
R1769:Golgb1	UTSW	16	36,916,001 (GRCm38)	missense	probably damaging	1.00
R2105:Golgb1	UTSW	16	36,914,664 (GRCm38)	missense	probably benign
R2212:Golgb1	UTSW	16	36,887,347 (GRCm38)	missense	probably damaging	1.00
R2261:Golgb1	UTSW	16	36,893,360 (GRCm38)	missense	probably damaging	1.00
R2352:Golgb1	UTSW	16	36,898,559 (GRCm38)	missense	probably damaging	0.99
R2357:Golgb1	UTSW	16	36,912,008 (GRCm38)	missense	probably damaging	1.00
R2400:Golgb1	UTSW	16	36,918,466 (GRCm38)	missense	possibly damaging	0.62
R2513:Golgb1	UTSW	16	36,915,151 (GRCm38)	missense	possibly damaging	0.73
R3103:Golgb1	UTSW	16	36,894,849 (GRCm38)	missense	probably damaging	1.00
R3413:Golgb1	UTSW	16	36,887,347 (GRCm38)	missense	probably damaging	1.00
R3748:Golgb1	UTSW	16	36,918,912 (GRCm38)	missense	probably benign	0.00
R3847:Golgb1	UTSW	16	36,898,733 (GRCm38)	missense	probably benign	0.00
R3850:Golgb1	UTSW	16	36,898,733 (GRCm38)	missense	probably benign	0.00
R3936:Golgb1	UTSW	16	36,914,056 (GRCm38)	nonsense	probably null
R3975:Golgb1	UTSW	16	36,918,571 (GRCm38)	missense	probably damaging	0.99
R4025:Golgb1	UTSW	16	36,915,344 (GRCm38)	missense	probably benign	0.00
R4518:Golgb1	UTSW	16	36,929,263 (GRCm38)	missense	probably damaging	0.98
R4600:Golgb1	UTSW	16	36,918,625 (GRCm38)	missense	probably damaging	1.00
R4610:Golgb1	UTSW	16	36,918,625 (GRCm38)	missense	probably damaging	1.00
R4660:Golgb1	UTSW	16	36,887,618 (GRCm38)	missense	probably damaging	0.99
R4811:Golgb1	UTSW	16	36,891,419 (GRCm38)	missense	probably damaging	1.00
R4815:Golgb1	UTSW	16	36,913,115 (GRCm38)	missense	possibly damaging	0.79
R4835:Golgb1	UTSW	16	36,891,407 (GRCm38)	missense	possibly damaging	0.86
R4904:Golgb1	UTSW	16	36,893,386 (GRCm38)	missense	probably damaging	1.00
R4916:Golgb1	UTSW	16	36,916,118 (GRCm38)	missense	probably benign	0.05
R5121:Golgb1	UTSW	16	36,919,258 (GRCm38)	missense	probably damaging	0.99
R5133:Golgb1	UTSW	16	36,891,457 (GRCm38)	missense	possibly damaging	0.75
R5143:Golgb1	UTSW	16	36,898,689 (GRCm38)	missense	probably benign	0.09
R5185:Golgb1	UTSW	16	36,875,141 (GRCm38)	unclassified	probably benign
R5188:Golgb1	UTSW	16	36,918,465 (GRCm38)	missense	probably benign	0.13
R5260:Golgb1	UTSW	16	36,913,141 (GRCm38)	missense	probably benign	0.00
R5297:Golgb1	UTSW	16	36,875,616 (GRCm38)	intron	probably benign
R5386:Golgb1	UTSW	16	36,912,315 (GRCm38)	nonsense	probably null
R5438:Golgb1	UTSW	16	36,900,508 (GRCm38)	missense	probably benign	0.15
R5439:Golgb1	UTSW	16	36,900,508 (GRCm38)	missense	probably benign	0.15
R5494:Golgb1	UTSW	16	36,928,683 (GRCm38)	missense	possibly damaging	0.67
R5592:Golgb1	UTSW	16	36,925,763 (GRCm38)	missense	probably benign	0.02
R5740:Golgb1	UTSW	16	36,919,000 (GRCm38)	missense	probably damaging	0.99
R5862:Golgb1	UTSW	16	36,926,091 (GRCm38)	splice site	silent
R5928:Golgb1	UTSW	16	36,911,987 (GRCm38)	missense	probably damaging	1.00
R6009:Golgb1	UTSW	16	36,914,959 (GRCm38)	missense	probably damaging	1.00
R6062:Golgb1	UTSW	16	36,914,671 (GRCm38)	missense	possibly damaging	0.89
R6102:Golgb1	UTSW	16	36,912,865 (GRCm38)	missense	probably damaging	1.00
R6198:Golgb1	UTSW	16	36,893,395 (GRCm38)	missense	probably damaging	1.00
R6253:Golgb1	UTSW	16	36,915,622 (GRCm38)	missense	possibly damaging	0.77
R6254:Golgb1	UTSW	16	36,913,978 (GRCm38)	missense	probably damaging	0.99
R6321:Golgb1	UTSW	16	36,918,197 (GRCm38)	nonsense	probably null
R6700:Golgb1	UTSW	16	36,875,584 (GRCm38)	intron	probably benign
R6870:Golgb1	UTSW	16	36,918,203 (GRCm38)	missense	probably damaging	1.00
R6882:Golgb1	UTSW	16	36,913,990 (GRCm38)	missense	probably benign
R6944:Golgb1	UTSW	16	36,912,113 (GRCm38)	missense	probably benign
R7108:Golgb1	UTSW	16	36,913,721 (GRCm38)	missense	probably benign	0.01
R7124:Golgb1	UTSW	16	36,913,673 (GRCm38)	missense	probably benign	0.01
R7125:Golgb1	UTSW	16	36,917,963 (GRCm38)	missense	possibly damaging	0.85
R7187:Golgb1	UTSW	16	36,916,150 (GRCm38)	missense	probably benign	0.43
R7205:Golgb1	UTSW	16	36,875,301 (GRCm38)	missense	unknown
R7206:Golgb1	UTSW	16	36,913,749 (GRCm38)	missense	probably benign	0.41
R7233:Golgb1	UTSW	16	36,914,758 (GRCm38)	missense	possibly damaging	0.91
R7320:Golgb1	UTSW	16	36,915,951 (GRCm38)	nonsense	probably null
R7367:Golgb1	UTSW	16	36,898,546 (GRCm38)	missense	probably benign	0.00
R7408:Golgb1	UTSW	16	36,898,547 (GRCm38)	missense	probably damaging	0.98
R7419:Golgb1	UTSW	16	36,912,919 (GRCm38)	missense	possibly damaging	0.95
R7556:Golgb1	UTSW	16	36,915,793 (GRCm38)	missense	probably benign	0.03
R7599:Golgb1	UTSW	16	36,875,396 (GRCm38)	missense	unknown
R7673:Golgb1	UTSW	16	36,913,669 (GRCm38)	missense	probably benign	0.05
R7789:Golgb1	UTSW	16	36,875,399 (GRCm38)	missense	unknown
R7792:Golgb1	UTSW	16	36,918,730 (GRCm38)	missense	probably benign	0.43
R7830:Golgb1	UTSW	16	36,898,721 (GRCm38)	missense	possibly damaging	0.93
R7847:Golgb1	UTSW	16	36,931,920 (GRCm38)	missense	probably damaging	1.00
R7905:Golgb1	UTSW	16	36,913,685 (GRCm38)	missense	probably benign
R7944:Golgb1	UTSW	16	36,914,104 (GRCm38)	missense	probably benign	0.02
R7945:Golgb1	UTSW	16	36,914,104 (GRCm38)	missense	probably benign	0.02
R7950:Golgb1	UTSW	16	36,915,424 (GRCm38)	missense	probably benign	0.13
R8040:Golgb1	UTSW	16	36,913,479 (GRCm38)	missense	possibly damaging	0.85
R8077:Golgb1	UTSW	16	36,918,633 (GRCm38)	missense	probably damaging	0.99
R8181:Golgb1	UTSW	16	36,916,830 (GRCm38)	missense	probably damaging	1.00
R8370:Golgb1	UTSW	16	36,912,317 (GRCm38)	missense	probably benign	0.00
R8684:Golgb1	UTSW	16	36,914,402 (GRCm38)	missense	possibly damaging	0.92
R8725:Golgb1	UTSW	16	36,919,201 (GRCm38)	missense	probably damaging	1.00
R8727:Golgb1	UTSW	16	36,919,201 (GRCm38)	missense	probably damaging	1.00
R8738:Golgb1	UTSW	16	36,916,313 (GRCm38)	missense	probably damaging	1.00
R8785:Golgb1	UTSW	16	36,919,744 (GRCm38)	missense	probably damaging	0.99
R8824:Golgb1	UTSW	16	36,915,689 (GRCm38)	missense	probably benign
R8825:Golgb1	UTSW	16	36,919,447 (GRCm38)	missense	probably benign	0.00
R8940:Golgb1	UTSW	16	36,916,397 (GRCm38)	missense	probably damaging	1.00
R8962:Golgb1	UTSW	16	36,913,616 (GRCm38)	missense	probably damaging	1.00
R9245:Golgb1	UTSW	16	36,918,819 (GRCm38)	nonsense	probably null
R9365:Golgb1	UTSW	16	36,915,762 (GRCm38)	missense	probably damaging	1.00
R9612:Golgb1	UTSW	16	36,919,605 (GRCm38)	missense	probably benign	0.41
R9620:Golgb1	UTSW	16	36,919,449 (GRCm38)	missense	probably benign
R9691:Golgb1	UTSW	16	36,898,634 (GRCm38)	missense	probably damaging	1.00
R9747:Golgb1	UTSW	16	36,893,407 (GRCm38)	missense	probably damaging	1.00
V1662:Golgb1	UTSW	16	36,898,542 (GRCm38)	missense	probably benign	0.00
X0067:Golgb1	UTSW	16	36,914,303 (GRCm38)	nonsense	probably null
Z1088:Golgb1	UTSW	16	36,919,742 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTGACCAGGAAAGACCAG -3'
(R):5'- AGGCAGAGAAACCTAAGCTGTC -3'

Sequencing Primer
(F):5'- CCAGGAGATGAAGGAGCTGC -3'
(R):5'- GAGAAACCTAAGCTGTCTCTTAAC -3'

Posted On

2015-07-06