Mutagenetix > Incidental Mutation

Incidental Mutation 'R6999:Gemin5'

544409

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

045104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58010828-58059365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58015947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1352 (R1352Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035604] [ENSMUST00000102711] [ENSMUST00000172035]

AlphaFold

Q8BX17

Predicted Effect

probably benign
Transcript: ENSMUST00000035604
AA Change: R1353Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: R1353Q

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102711
AA Change: R1352Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: R1352Q

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1063	1083	N/A	INTRINSIC
low complexity region	1116	1131	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172035
AA Change: R1353Q

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

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: R1353Q

Domain	Start	End	E-Value	Type
WD40	53	95	1.47e-6	SMART
WD40	98	138	6.19e-1	SMART
WD40	141	180	1.54e0	SMART
WD40	184	255	2.45e-8	SMART
WD40	280	312	1.42e2	SMART
WD40	316	365	1.99e0	SMART
WD40	368	408	5.15e-2	SMART
WD40	415	455	8.49e-3	SMART
WD40	460	511	8.84e1	SMART
WD40	529	564	4.28e0	SMART
WD40	567	613	2.24e-2	SMART
WD40	628	668	2.2e-10	SMART
WD40	671	711	2.31e-4	SMART
low complexity region	731	754	N/A	INTRINSIC
low complexity region	788	804	N/A	INTRINSIC
low complexity region	813	844	N/A	INTRINSIC
low complexity region	1064	1084	N/A	INTRINSIC
low complexity region	1117	1132	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,356,321 (GRCm39)	Q629*	probably null	Het
Acss3	C	A	10: 106,889,362 (GRCm39)	G153C	probably damaging	Het
Alpk2	A	G	18: 65,437,584 (GRCm39)	S1270P	probably damaging	Het
Ankrd10	A	T	8: 11,669,106 (GRCm39)	L215Q	probably damaging	Het
Ankrd6	A	G	4: 32,823,459 (GRCm39)	S188P	probably benign	Het
Brinp2	A	G	1: 158,078,875 (GRCm39)	M316T	probably benign	Het
Bsn	A	G	9: 107,990,632 (GRCm39)	S1707P	probably benign	Het
C2cd4b	C	T	9: 67,667,571 (GRCm39)	A189V	probably benign	Het
Camk2b	C	T	11: 5,922,321 (GRCm39)	R556H	probably damaging	Het
Cfap126	A	G	1: 170,953,733 (GRCm39)	D101G	possibly damaging	Het
Chd5	A	T	4: 152,458,891 (GRCm39)	I1085F	probably damaging	Het
Chp2	A	G	7: 121,821,092 (GRCm39)	E151G	probably damaging	Het
Chrd	A	G	16: 20,554,402 (GRCm39)	T370A	probably benign	Het
Chrnb2	C	T	3: 89,668,622 (GRCm39)	R231H	possibly damaging	Het
Crisp4	T	A	1: 18,207,259 (GRCm39)	I10F	possibly damaging	Het
Csnka2ip	T	A	16: 64,298,933 (GRCm39)	H477L	unknown	Het
Ctu1	T	A	7: 43,324,662 (GRCm39)	F34I	probably damaging	Het
Dctn1	T	A	6: 83,168,263 (GRCm39)	S407T	possibly damaging	Het
Ech1	T	C	7: 28,529,689 (GRCm39)	F191L	probably benign	Het
Enpp3	T	C	10: 24,684,064 (GRCm39)	D60G	probably damaging	Het
Epha6	T	C	16: 60,245,533 (GRCm39)	Y222C	possibly damaging	Het
Eppk1	A	T	15: 75,993,423 (GRCm39)	W1153R	probably benign	Het
Fbxo4	C	T	15: 4,007,437 (GRCm39)	D76N	probably damaging	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Gm9639	T	C	10: 77,630,525 (GRCm39)		probably benign	Het
Gm973	C	A	1: 59,673,251 (GRCm39)	Q160K	unknown	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid2	A	T	6: 64,053,893 (GRCm39)	Q364L	possibly damaging	Het
Kcnn2	T	G	18: 45,725,444 (GRCm39)	S313R	probably damaging	Het
Kera	T	C	10: 97,444,814 (GRCm39)	Y58H	probably damaging	Het
Meiosin	A	G	7: 18,836,300 (GRCm39)		probably benign	Het
Mtfr2	T	C	10: 20,229,862 (GRCm39)	L105P	probably benign	Het
Myom2	A	G	8: 15,134,531 (GRCm39)	T445A	probably benign	Het
Or2o1	A	G	11: 49,051,239 (GRCm39)	R133G	possibly damaging	Het
Or8b1c	T	A	9: 38,384,535 (GRCm39)	L164Q	probably damaging	Het
Pcdha12	T	C	18: 37,153,329 (GRCm39)	L16P	probably benign	Het
Pcdhb10	T	C	18: 37,546,171 (GRCm39)	Y416H	probably damaging	Het
Pde8b	T	C	13: 95,223,342 (GRCm39)	Y304C	possibly damaging	Het
Pkd1	T	C	17: 24,797,475 (GRCm39)	I2605T	possibly damaging	Het
Pnn	T	C	12: 59,117,085 (GRCm39)		probably null	Het
Ppa1	G	A	10: 61,496,796 (GRCm39)	G95S	probably damaging	Het
Rapgef4	G	T	2: 72,069,469 (GRCm39)	A730S	probably damaging	Het
Scap	A	G	9: 110,213,715 (GRCm39)	Y1226C	probably damaging	Het
Scn2a	A	T	2: 65,512,453 (GRCm39)	T197S	probably benign	Het
Slc2a6	GCTTCC	GC	2: 26,916,047 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,529 (GRCm39)	Y430C	probably benign	Het
Tead3	T	C	17: 28,560,506 (GRCm39)	T33A	probably benign	Het
Tep1	T	A	14: 51,088,162 (GRCm39)	I792F	possibly damaging	Het
Trpm2	A	T	10: 77,771,725 (GRCm39)	I638N	probably damaging	Het
Tuba1c	A	G	15: 98,935,193 (GRCm39)	D218G	probably benign	Het
Tubgcp4	T	A	2: 121,022,778 (GRCm39)	W495R	probably damaging	Het
Tut1	T	C	19: 8,943,382 (GRCm39)	L823P	probably damaging	Het
Ube2q2l	T	C	6: 136,378,272 (GRCm39)	N186S	probably benign	Het
Umodl1	C	T	17: 31,218,097 (GRCm39)	A1228V	probably damaging	Het
Vmn1r235	T	A	17: 21,482,127 (GRCm39)	F151I	probably benign	Het
Vmn2r45	T	A	7: 8,486,219 (GRCm39)	K356N	probably benign	Het
Zfp318	T	A	17: 46,710,969 (GRCm39)	N897K	probably damaging	Het

Other mutations in Gemin5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Gemin5	APN	11	58,054,643 (GRCm39)	missense	probably damaging	1.00
IGL00540:Gemin5	APN	11	58,051,644 (GRCm39)	missense	probably damaging	1.00
IGL01521:Gemin5	APN	11	58,025,744 (GRCm39)	splice site	probably benign
IGL02190:Gemin5	APN	11	58,025,668 (GRCm39)	missense	probably damaging	1.00
IGL02274:Gemin5	APN	11	58,047,621 (GRCm39)	missense	possibly damaging	0.80
IGL02494:Gemin5	APN	11	58,012,583 (GRCm39)	missense	probably benign	0.12
IGL02549:Gemin5	APN	11	58,025,629 (GRCm39)	missense	probably damaging	1.00
IGL02740:Gemin5	APN	11	58,042,390 (GRCm39)	missense	probably damaging	1.00
IGL02815:Gemin5	APN	11	58,037,235 (GRCm39)	missense	probably damaging	1.00
IGL02823:Gemin5	APN	11	58,058,531 (GRCm39)	splice site	probably benign
IGL02939:Gemin5	APN	11	58,047,556 (GRCm39)	missense	probably damaging	1.00
Landscape	UTSW	11	58,054,730 (GRCm39)	missense	probably benign	0.16
R0101:Gemin5	UTSW	11	58,036,322 (GRCm39)	missense	probably damaging	1.00
R0479:Gemin5	UTSW	11	58,030,377 (GRCm39)	missense	probably benign	0.00
R1481:Gemin5	UTSW	11	58,032,480 (GRCm39)	missense	probably damaging	1.00
R1642:Gemin5	UTSW	11	58,029,906 (GRCm39)	missense	probably damaging	1.00
R1648:Gemin5	UTSW	11	58,038,805 (GRCm39)	nonsense	probably null
R1980:Gemin5	UTSW	11	58,027,743 (GRCm39)	missense	probably damaging	1.00
R3079:Gemin5	UTSW	11	58,036,345 (GRCm39)	missense	probably damaging	1.00
R3418:Gemin5	UTSW	11	58,047,454 (GRCm39)	splice site	probably null
R4260:Gemin5	UTSW	11	58,059,185 (GRCm39)	missense	probably damaging	0.99
R4396:Gemin5	UTSW	11	58,030,375 (GRCm39)	missense	probably benign	0.05
R4902:Gemin5	UTSW	11	58,055,103 (GRCm39)	missense	probably benign	0.18
R5178:Gemin5	UTSW	11	58,037,344 (GRCm39)	missense	probably benign	0.01
R5296:Gemin5	UTSW	11	58,020,887 (GRCm39)	missense	probably damaging	1.00
R5350:Gemin5	UTSW	11	58,032,412 (GRCm39)	critical splice donor site	probably null
R5426:Gemin5	UTSW	11	58,016,113 (GRCm39)	missense	probably benign	0.00
R5494:Gemin5	UTSW	11	58,021,526 (GRCm39)	missense	probably damaging	1.00
R5744:Gemin5	UTSW	11	58,046,009 (GRCm39)	missense	possibly damaging	0.88
R5889:Gemin5	UTSW	11	58,013,181 (GRCm39)	missense	possibly damaging	0.76
R5984:Gemin5	UTSW	11	58,047,587 (GRCm39)	missense	probably damaging	1.00
R6844:Gemin5	UTSW	11	58,054,730 (GRCm39)	missense	probably benign	0.16
R6934:Gemin5	UTSW	11	58,038,738 (GRCm39)	missense	probably damaging	1.00
R7015:Gemin5	UTSW	11	58,047,566 (GRCm39)	missense	probably damaging	1.00
R7144:Gemin5	UTSW	11	58,032,489 (GRCm39)	missense	probably benign	0.30
R7176:Gemin5	UTSW	11	58,056,828 (GRCm39)	missense	probably benign	0.05
R7540:Gemin5	UTSW	11	58,021,228 (GRCm39)	splice site	probably null
R7670:Gemin5	UTSW	11	58,038,754 (GRCm39)	missense	probably benign	0.01
R7717:Gemin5	UTSW	11	58,042,356 (GRCm39)	critical splice donor site	probably null
R7791:Gemin5	UTSW	11	58,015,819 (GRCm39)	missense	probably benign	0.04
R7981:Gemin5	UTSW	11	58,036,231 (GRCm39)	missense	probably damaging	1.00
R8050:Gemin5	UTSW	11	58,019,686 (GRCm39)	missense	probably benign	0.00
R8307:Gemin5	UTSW	11	58,042,420 (GRCm39)	missense	probably damaging	1.00
R8353:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R8371:Gemin5	UTSW	11	58,017,384 (GRCm39)	missense	probably benign
R8453:Gemin5	UTSW	11	58,016,065 (GRCm39)	missense	probably benign	0.00
R9181:Gemin5	UTSW	11	58,021,035 (GRCm39)	missense	probably benign	0.00
R9294:Gemin5	UTSW	11	58,028,574 (GRCm39)	missense	probably benign	0.08
R9400:Gemin5	UTSW	11	58,028,541 (GRCm39)	missense	probably damaging	1.00
R9672:Gemin5	UTSW	11	58,058,585 (GRCm39)	missense	probably benign	0.00
R9722:Gemin5	UTSW	11	58,041,418 (GRCm39)	missense	probably damaging	1.00
R9790:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
R9791:Gemin5	UTSW	11	58,020,846 (GRCm39)	nonsense	probably null
X0066:Gemin5	UTSW	11	58,042,361 (GRCm39)	missense	probably benign	0.02
Z1186:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1186:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1186:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1186:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1187:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1187:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1188:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1188:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1188:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1189:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1189:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1189:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1190:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1190:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1190:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1191:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1191:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1191:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,016,044 (GRCm39)	missense	probably benign	0.00
Z1192:Gemin5	UTSW	11	58,013,115 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,037,345 (GRCm39)	missense	probably benign	0.03
Z1192:Gemin5	UTSW	11	58,030,401 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,030,336 (GRCm39)	missense	probably benign
Z1192:Gemin5	UTSW	11	58,020,897 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACTTACGTTGGGCTCGG -3'
(R):5'- ATGAAGTCTGGTGGTCGCTC -3'

Sequencing Primer
(F):5'- CTCGGAGGCTGAGAAGGAGC -3'
(R):5'- GTGTTGTCAGCTGAAAGC -3'

Posted On

2019-05-13