Mutagenetix > Incidental Mutation

Incidental Mutation 'R9400:Gemin5'

711061

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9400 (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 58028541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 893 (G893D)

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

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

AlphaFold

Q8BX17

Predicted Effect

probably damaging
Transcript: ENSMUST00000035604
AA Change: G893D

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

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275
AA Change: G893D

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 damaging
Transcript: ENSMUST00000102711
AA Change: G892D

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

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275
AA Change: G892D

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 damaging
Transcript: ENSMUST00000172035
AA Change: G893D

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

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275
AA Change: G893D

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	G	17: 9,211,118 (GRCm39)	N89S	probably benign	Het
9930111J21Rik1	C	T	11: 48,839,244 (GRCm39)	E448K	possibly damaging	Het
Acer1	G	A	17: 57,288,990 (GRCm39)	T40M	probably damaging	Het
Adam1a	T	C	5: 121,657,893 (GRCm39)	T467A	probably benign	Het
Agmat	A	G	4: 141,476,981 (GRCm39)	D129G	probably damaging	Het
Ak8	T	A	2: 28,650,011 (GRCm39)	I346N	probably benign	Het
Ankrd12	A	T	17: 66,291,875 (GRCm39)	V1186E	probably damaging	Het
Ankrd27	T	G	7: 35,316,282 (GRCm39)	L516R	probably damaging	Het
Aplp2	C	A	9: 31,075,855 (GRCm39)	R402L	possibly damaging	Het
Aspm	A	G	1: 139,407,641 (GRCm39)	Y2176C	probably damaging	Het
Boc	T	C	16: 44,319,844 (GRCm39)	D380G		Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chst2	T	C	9: 95,287,642 (GRCm39)	S235G	probably benign	Het
Clca4b	A	G	3: 144,616,953 (GRCm39)	V899A	probably benign	Het
Ddx1	A	G	12: 13,273,703 (GRCm39)	S617P	probably damaging	Het
Etv5	A	T	16: 22,220,476 (GRCm39)	F304I	probably benign	Het
Fmo9	T	G	1: 166,505,243 (GRCm39)	E50A	probably benign	Het
Gbp11	T	C	5: 105,478,841 (GRCm39)	E199G	probably damaging	Het
Gorab	G	T	1: 163,224,567 (GRCm39)	P78Q	probably damaging	Het
Gprc5a	A	G	6: 135,055,558 (GRCm39)	T2A	probably benign	Het
Gtf3c1	A	G	7: 125,275,683 (GRCm39)	I581T	probably damaging	Het
H6pd	A	G	4: 150,080,248 (GRCm39)	F199S	probably damaging	Het
Hdac3	A	T	18: 38,070,677 (GRCm39)	V426E	possibly damaging	Het
Jag2	G	T	12: 112,875,608 (GRCm39)	Y838*	probably null	Het
Kat6b	G	T	14: 21,659,826 (GRCm39)	R210L	probably damaging	Het
Kctd11	C	A	11: 69,770,544 (GRCm39)	E165*	probably null	Het
Knl1	T	C	2: 118,931,224 (GRCm39)	V1980A	probably damaging	Het
Lilrb4b	T	C	10: 51,357,319 (GRCm39)	S52P	probably benign	Het
Lrp5	T	G	19: 3,635,272 (GRCm39)	M1535L	probably benign	Het
Lrr1	A	G	12: 69,221,476 (GRCm39)	D206G	probably benign	Het
Lrrd1	G	A	5: 3,899,677 (GRCm39)		probably benign	Het
Map3k6	C	A	4: 132,968,467 (GRCm39)	A23E	probably damaging	Het
Mgat4a	T	C	1: 37,502,025 (GRCm39)	D241G	probably damaging	Het
Mpzl3	A	G	9: 44,986,077 (GRCm39)	Y237C	possibly damaging	Het
Mroh1	A	G	15: 76,336,093 (GRCm39)	E1489G	possibly damaging	Het
Myocd	T	C	11: 65,086,934 (GRCm39)	H331R	probably benign	Het
Myoz1	T	A	14: 20,699,504 (GRCm39)	H278L	probably benign	Het
Or12d2	A	T	17: 37,624,554 (GRCm39)	C240*	probably null	Het
Or1e22	A	T	11: 73,376,807 (GRCm39)	V281E	probably damaging	Het
Or4c104	A	G	2: 88,586,293 (GRCm39)	I242T	possibly damaging	Het
Or5a3	C	A	19: 12,400,274 (GRCm39)	N200K	possibly damaging	Het
Or5b102	T	A	19: 13,041,139 (GRCm39)	Y121*	probably null	Het
Or5b24	T	A	19: 12,912,878 (GRCm39)	Y259N	probably damaging	Het
Otof	A	T	5: 30,540,863 (GRCm39)		probably null	Het
Pcdha1	A	G	18: 37,064,760 (GRCm39)	I475V	probably benign	Het
Pcgf1	A	G	6: 83,057,066 (GRCm39)	E199G	possibly damaging	Het
Pip	C	A	6: 41,828,782 (GRCm39)	T109K	probably benign	Het
Slc12a7	A	G	13: 73,932,689 (GRCm39)	E59G	probably benign	Het
Slc38a2	T	C	15: 96,591,053 (GRCm39)	I237V	probably benign	Het
Slc6a5	T	C	7: 49,595,267 (GRCm39)	V543A	probably benign	Het
Slc9a2	T	C	1: 40,758,211 (GRCm39)	V250A	possibly damaging	Het
Smarcad1	T	C	6: 65,050,214 (GRCm39)	Y278H	probably damaging	Het
Snx7	A	T	3: 117,630,863 (GRCm39)	N248K	probably benign	Het
Spata6	T	A	4: 111,577,428 (GRCm39)	C9S	probably benign	Het
Stra6l	T	A	4: 45,885,293 (GRCm39)	L587Q	probably damaging	Het
Tmem131l	G	T	3: 83,830,293 (GRCm39)	N916K	possibly damaging	Het
Tmprss11c	C	T	5: 86,385,516 (GRCm39)	V319I	probably benign	Het
Tpo	A	T	12: 30,169,441 (GRCm39)	I98K	possibly damaging	Het
Umodl1	A	G	17: 31,215,367 (GRCm39)	T1064A	probably damaging	Het
Vldlr	T	C	19: 27,216,175 (GRCm39)	I332T	probably damaging	Het
Wdr75	T	A	1: 45,843,064 (GRCm39)	L133Q	probably damaging	Het
Zdhhc21	T	C	4: 82,753,687 (GRCm39)	N167S	probably benign	Het
Zfp37	A	T	4: 62,109,904 (GRCm39)	C428S	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
R6999:Gemin5	UTSW	11	58,015,947 (GRCm39)	missense	probably benign	0.00
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
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'- ATATGGGTGTAGTCAAGATGGC -3'
(R):5'- TGCCCAAGCTGAGTTTTAAAGG -3'

Sequencing Primer
(F):5'- GTCAAGATGGCATCTGTTTGTAAAC -3'
(R):5'- GGCTTCAAACTTTCTGTAAGTAGCAG -3'

Posted On

2022-04-20