Mutagenetix > Incidental Mutation

Incidental Mutation 'R9049:C9orf72'

688227

Institutional Source

Beutler Lab

Gene Symbol

C9orf72

Ensembl Gene

ENSMUSG00000028300

Gene Name

C9orf72, member of C9orf72-SMCR8 complex

Synonyms

Dennd9, 3110043O21Rik

MMRRC Submission

068875-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35191285-35226153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35192964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 455 (I455T)

Ref Sequence

ENSEMBL: ENSMUSP00000103762 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084724] [ENSMUST00000108126] [ENSMUST00000108127]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000084724

SMART Domains

Protein: ENSMUSP00000081775
Gene: ENSMUSG00000028300

Domain	Start	End	E-Value	Type
Pfam:C9orf72-like	60	325	6.8e-90	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000108126
AA Change: I291T

SMART Domains

Protein: ENSMUSP00000103761
Gene: ENSMUSG00000028300
AA Change: I291T

Domain	Start	End	E-Value	Type
Pfam:C9orf72-like	1	161	2e-56	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000108127
AA Change: I455T

SMART Domains

Protein: ENSMUSP00000103762
Gene: ENSMUSG00000028300
AA Change: I455T

Domain	Start	End	E-Value	Type
Pfam:C9orf72-like	61	324	1.9e-99	PFAM

Meta Mutation Damage Score

0.1501

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
PHENOTYPE: Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	G	1: 120,115,900 (GRCm39)	I118V	probably null	Het
Abcc9	A	G	6: 142,628,658 (GRCm39)	L362P	probably damaging	Het
Adam7	C	A	14: 68,762,674 (GRCm39)	V184F	probably benign	Het
Adgre4	T	C	17: 56,092,094 (GRCm39)	I118T	probably benign	Het
Akap9	T	C	5: 4,114,597 (GRCm39)	L3292P		Het
Akr1b10	A	G	6: 34,373,561 (GRCm39)	E308G	possibly damaging	Het
Aopep	A	G	13: 63,208,852 (GRCm39)	Y323C	probably benign	Het
Ash1l	T	C	3: 88,914,671 (GRCm39)	V1767A	probably benign	Het
Bpifb3	C	A	2: 153,767,810 (GRCm39)	N294K	probably benign	Het
Bpifb5	A	G	2: 154,070,096 (GRCm39)	N182S	probably benign	Het
Camkmt	A	G	17: 85,709,912 (GRCm39)	I205M	possibly damaging	Het
Ccdc88b	C	T	19: 6,826,442 (GRCm39)	R1091Q	probably benign	Het
Cfap58	A	T	19: 48,015,157 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,733,143 (GRCm39)	I122L	probably benign	Het
Col6a3	T	A	1: 90,707,066 (GRCm39)	S2623C	unknown	Het
Cpne5	A	G	17: 29,379,332 (GRCm39)	S484P	probably damaging	Het
Cyp4f39	T	A	17: 32,705,965 (GRCm39)	L352Q	probably damaging	Het
Dcun1d1	T	C	3: 35,951,998 (GRCm39)	N183D	probably benign	Het
Dgkg	A	G	16: 22,419,338 (GRCm39)	V54A	probably benign	Het
Dnah12	T	A	14: 26,443,275 (GRCm39)	D561E	probably benign	Het
Dnah6	A	C	6: 73,119,275 (GRCm39)	L1536R	probably damaging	Het
Gm21834	G	A	17: 58,048,826 (GRCm39)	T130I	possibly damaging	Het
Hectd4	T	A	5: 121,451,955 (GRCm39)	V434E	possibly damaging	Het
Htr3a	C	A	9: 48,811,087 (GRCm39)	V459L	probably damaging	Het
Lonp2	T	C	8: 87,435,735 (GRCm39)	V657A	probably benign	Het
Mdfi	C	A	17: 48,135,479 (GRCm39)	V84L	probably damaging	Het
Mdm1	C	T	10: 117,982,605 (GRCm39)	T80M	probably benign	Het
Muc5ac	A	C	7: 141,362,712 (GRCm39)	I2008L	unknown	Het
Nomo1	A	G	7: 45,715,597 (GRCm39)	D681G	probably benign	Het
Or10g9	G	T	9: 39,911,919 (GRCm39)	N201K	possibly damaging	Het
Or14j6	G	A	17: 38,214,764 (GRCm39)	W109*	probably null	Het
Or1af1	C	G	2: 37,109,959 (GRCm39)	H153D	probably damaging	Het
Or1p1c	A	G	11: 74,161,115 (GRCm39)	K300R	possibly damaging	Het
Or5h25	T	G	16: 58,930,763 (GRCm39)	D70A	probably damaging	Het
Or5m5	A	G	2: 85,814,235 (GRCm39)	E17G	possibly damaging	Het
Or7e169	T	C	9: 19,757,045 (GRCm39)	Y290C	probably damaging	Het
Pip5k1c	C	A	10: 81,152,710 (GRCm39)		probably benign	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pira13	T	A	7: 3,819,890 (GRCm39)	T676S	unknown	Het
Pld3	C	T	7: 27,235,293 (GRCm39)	V312M	possibly damaging	Het
Pnisr	T	A	4: 21,854,391 (GRCm39)	W12R	unknown	Het
Polr3e	A	G	7: 120,538,462 (GRCm39)	K410R	probably benign	Het
Ppif	G	T	14: 25,694,836 (GRCm39)	V61L	possibly damaging	Het
Pramel5	T	C	4: 144,000,486 (GRCm39)	N30S	probably benign	Het
Prex2	T	G	1: 11,256,130 (GRCm39)	L1167R	probably damaging	Het
Prkacb	A	T	3: 146,461,518 (GRCm39)		probably benign	Het
Prl3a1	T	A	13: 27,460,167 (GRCm39)	L217H	probably damaging	Het
Prop1	G	C	11: 50,842,948 (GRCm39)	Q80E	probably damaging	Het
Psma1	T	C	7: 113,865,764 (GRCm39)	I214V	probably benign	Het
Ptgfr	T	A	3: 151,541,404 (GRCm39)	I35F	probably benign	Het
Rcvrn	A	T	11: 67,586,568 (GRCm39)	Y109F	probably benign	Het
Repin1	A	G	6: 48,574,646 (GRCm39)	D525G	possibly damaging	Het
Slc12a2	A	T	18: 58,054,863 (GRCm39)	R835*	probably null	Het
Sqle	T	C	15: 59,189,711 (GRCm39)	F118L	probably benign	Het
Stard9	A	T	2: 120,510,418 (GRCm39)	Y333F	probably benign	Het
Tbc1d16	G	A	11: 119,100,090 (GRCm39)	R95C	probably damaging	Het
Tln1	C	A	4: 43,549,786 (GRCm39)	E542*	probably null	Het
Tmem161b	G	T	13: 84,442,754 (GRCm39)	A407S	probably benign	Het
Tnc	G	T	4: 63,918,247 (GRCm39)	D1221E	possibly damaging	Het
Tnks	T	C	8: 35,308,932 (GRCm39)	K1109R	probably damaging	Het
Tpp2	T	C	1: 43,992,502 (GRCm39)	V194A	possibly damaging	Het
Ust	G	A	10: 8,183,218 (GRCm39)	Q162*	probably null	Het
Utp15	T	C	13: 98,395,778 (GRCm39)	Y68C	probably damaging	Het
Vcan	A	T	13: 89,826,224 (GRCm39)	H3193Q	probably damaging	Het
Vmn2r55	T	C	7: 12,418,908 (GRCm39)	Y4C	probably damaging	Het

Other mutations in C9orf72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:C9orf72	APN	4	35,213,616 (GRCm39)	missense	possibly damaging	0.57
IGL00718:C9orf72	APN	4	35,213,015 (GRCm39)	missense	probably damaging	1.00
IGL01284:C9orf72	APN	4	35,218,808 (GRCm39)	missense	probably damaging	0.96
IGL01998:C9orf72	APN	4	35,194,179 (GRCm39)	missense	probably benign	0.30
IGL02185:C9orf72	APN	4	35,197,046 (GRCm39)	missense	probably damaging	1.00
IGL02403:C9orf72	APN	4	35,205,887 (GRCm39)	splice site	probably benign
IGL02823:C9orf72	APN	4	35,213,031 (GRCm39)	missense	probably damaging	0.98
R0194:C9orf72	UTSW	4	35,197,207 (GRCm39)	missense	probably damaging	1.00
R0471:C9orf72	UTSW	4	35,193,257 (GRCm39)	missense	probably benign	0.01
R1172:C9orf72	UTSW	4	35,218,630 (GRCm39)	missense	probably damaging	0.99
R1175:C9orf72	UTSW	4	35,218,630 (GRCm39)	missense	probably damaging	0.99
R1765:C9orf72	UTSW	4	35,197,098 (GRCm39)	missense	probably damaging	1.00
R4326:C9orf72	UTSW	4	35,225,985 (GRCm39)	unclassified	probably benign
R4327:C9orf72	UTSW	4	35,225,985 (GRCm39)	unclassified	probably benign
R4328:C9orf72	UTSW	4	35,225,985 (GRCm39)	unclassified	probably benign
R4679:C9orf72	UTSW	4	35,226,033 (GRCm39)	unclassified	probably benign
R4844:C9orf72	UTSW	4	35,213,565 (GRCm39)	missense	possibly damaging	0.47
R5150:C9orf72	UTSW	4	35,193,270 (GRCm39)	missense	possibly damaging	0.92
R5528:C9orf72	UTSW	4	35,213,556 (GRCm39)	missense	probably benign	0.18
R5789:C9orf72	UTSW	4	35,226,112 (GRCm39)	unclassified	probably benign
R7790:C9orf72	UTSW	4	35,192,997 (GRCm39)	missense	unknown
R7805:C9orf72	UTSW	4	35,194,170 (GRCm39)	missense
R8115:C9orf72	UTSW	4	35,218,763 (GRCm39)	missense
R9327:C9orf72	UTSW	4	35,205,883 (GRCm39)	missense
R9373:C9orf72	UTSW	4	35,196,985 (GRCm39)	missense
R9590:C9orf72	UTSW	4	35,218,557 (GRCm39)	missense
R9591:C9orf72	UTSW	4	35,218,557 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CTGACAAGTGTAGTGTACCCTG -3'
(R):5'- GCCTTTATGCATTGACAGTTGC -3'

Sequencing Primer
(F):5'- ACAAGTGTAGTGTACCCTGTCCTG -3'
(R):5'- ATGCATTGACAGTTGCTGTTC -3'

Posted On

2021-11-19