Mutagenetix > Incidental Mutation

Incidental Mutation 'R7540:Gemin5'

585971

Institutional Source

Beutler Lab

Gene Symbol

Gemin5

Ensembl Gene

ENSMUSG00000037275

Gene Name

gem nuclear organelle associated protein 5

Synonyms

MMRRC Submission

045612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7540 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58010828-58059365 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 58021228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131842 (fasta)

Gene Model

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

AlphaFold

Q8BX17

Predicted Effect

probably null
Transcript: ENSMUST00000035604

SMART Domains

Protein: ENSMUSP00000036603
Gene: ENSMUSG00000037275

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 null
Transcript: ENSMUST00000102711

SMART Domains

Protein: ENSMUSP00000099772
Gene: ENSMUSG00000037275

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 null
Transcript: ENSMUST00000172035

SMART Domains

Protein: ENSMUSP00000131842
Gene: ENSMUSG00000037275

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts8	A	G	9: 30,870,360 (GRCm39)	E650G	probably damaging	Het
Adgrg7	G	A	16: 56,570,792 (GRCm39)	T412M	probably damaging	Het
Ank2	C	T	3: 126,781,808 (GRCm39)	V7I	possibly damaging	Het
Bpifb1	G	A	2: 154,055,031 (GRCm39)	V308M	probably damaging	Het
C3	A	G	17: 57,513,220 (GRCm39)	S1476P	probably benign	Het
Dgkb	A	T	12: 38,031,789 (GRCm39)		probably benign	Het
Fmn1	A	G	2: 113,359,655 (GRCm39)		probably null	Het
Foxb1	G	A	9: 69,667,141 (GRCm39)	Q130*	probably null	Het
Ghr	T	A	15: 3,349,396 (GRCm39)	D594V	possibly damaging	Het
Gm10272	A	C	10: 77,542,460 (GRCm39)	M1L	unknown	Het
Gpr161	G	A	1: 165,146,404 (GRCm39)	V447M	probably damaging	Het
Hspg2	T	A	4: 137,268,751 (GRCm39)	S2157T	possibly damaging	Het
Irs1	A	G	1: 82,265,723 (GRCm39)	V831A	not run	Het
Itga8	T	A	2: 12,115,848 (GRCm39)	I1014L	possibly damaging	Het
Iws1	T	A	18: 32,213,536 (GRCm39)	S321R	possibly damaging	Het
Kctd19	G	T	8: 106,113,567 (GRCm39)	P702Q	probably benign	Het
Man2c1	G	A	9: 57,047,559 (GRCm39)	D739N	probably damaging	Het
Mboat4	T	A	8: 34,591,178 (GRCm39)	L205Q	probably damaging	Het
Meis3	C	A	7: 15,911,418 (GRCm39)	Y38*	probably null	Het
Mroh7	G	T	4: 106,577,595 (GRCm39)	T361K	possibly damaging	Het
Msantd5f2	C	T	4: 73,586,648 (GRCm39)		probably benign	Het
Myl6b	T	A	10: 128,332,149 (GRCm39)	K106*	probably null	Het
Naaa	T	A	5: 92,411,583 (GRCm39)	T241S	probably benign	Het
Neurog3	T	G	10: 61,969,756 (GRCm39)	I172S	probably benign	Het
Nub1	T	G	5: 24,906,527 (GRCm39)	I351R	probably damaging	Het
Or2t47	C	A	11: 58,442,457 (GRCm39)	V203L	possibly damaging	Het
Or3a1c	A	T	11: 74,046,414 (GRCm39)	R145W	probably benign	Het
Or6c207	A	T	10: 129,105,003 (GRCm39)	F63Y	probably benign	Het
Osbp2	T	C	11: 3,667,944 (GRCm39)	K18E	probably damaging	Het
Pcdh8	A	T	14: 80,008,543 (GRCm39)	W7R	probably benign	Het
Pcsk7	G	T	9: 45,838,971 (GRCm39)		probably null	Het
Plin4	G	A	17: 56,411,883 (GRCm39)	T716I	probably damaging	Het
Prkcb	G	A	7: 122,167,357 (GRCm39)	V356I	probably damaging	Het
Pus7	G	A	5: 23,965,244 (GRCm39)	T304I	probably damaging	Het
Rmnd1	A	G	10: 4,353,989 (GRCm39)	V402A	probably damaging	Het
Slmap	T	C	14: 26,181,346 (GRCm39)	E329G	probably damaging	Het
Sytl3	T	C	17: 6,949,346 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,561,776 (GRCm39)	I1087V	probably benign	Het
Tmco1	A	G	1: 167,153,572 (GRCm39)	T162A		Het
Tti1	G	A	2: 157,849,916 (GRCm39)	T441I	probably benign	Het
Tubgcp6	G	T	15: 88,986,526 (GRCm39)	Q1366K	possibly damaging	Het
Ush1g	T	C	11: 115,209,399 (GRCm39)	K265R	probably benign	Het
Zdhhc8	A	G	16: 18,045,674 (GRCm39)	V209A	probably damaging	Het
Zfp160	T	A	17: 21,245,922 (GRCm39)	Y157*	probably null	Het
Zfp423	A	T	8: 88,414,695 (GRCm39)	C1208S	possibly damaging	Het
Zfyve26	A	T	12: 79,315,450 (GRCm39)	V1342E	probably damaging	Het
Zmym1	A	T	4: 126,942,550 (GRCm39)	C613S	probably benign	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
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'- TGGCTCCTAAGTAGCTGTGG -3'
(R):5'- TAGGATCTGCCAGGAACACAAC -3'

Sequencing Primer
(F):5'- CTCCTAAGTAGCTGTGGCAAGAAG -3'
(R):5'- ACTTGAGTGTAGAAATGGGCAC -3'

Posted On

2019-10-18