Mutagenetix > Incidental Mutation

Incidental Mutation 'R4773:Fam111a'

367726

Institutional Source

Beutler Lab

Gene Symbol

Fam111a

Ensembl Gene

ENSMUSG00000024691

Gene Name

family with sequence similarity 111, member A

Synonyms

4632417K18Rik

MMRRC Submission

042411-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4773 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12550874-12567133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12565772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 507 (N507I)

Ref Sequence

ENSEMBL: ENSMUSP00000123598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025595] [ENSMUST00000144662] [ENSMUST00000151307]

AlphaFold

Q9D2L9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025595
AA Change: N551I

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: N551I

Domain	Start	End	E-Value	Type
low complexity region	311	320	N/A	INTRINSIC
Pfam:Trypsin	353	580	2.7e-7	PFAM
Pfam:Trypsin_2	368	557	6.4e-15	PFAM
Pfam:Peptidase_S7	491	574	6.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139270

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144662
AA Change: N551I

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: N551I

Domain	Start	End	E-Value	Type
low complexity region	311	320	N/A	INTRINSIC
Pfam:Trypsin	353	580	2.7e-7	PFAM
Pfam:Trypsin_2	355	557	1.3e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151307
AA Change: N507I

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: N507I

Domain	Start	End	E-Value	Type
low complexity region	267	276	N/A	INTRINSIC
Pfam:Trypsin	309	536	6.6e-7	PFAM
Pfam:Trypsin_2	324	513	5.6e-15	PFAM
Pfam:Peptidase_S7	447	530	8.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224046

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (89/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	A	G	11: 50,982,089 (GRCm39)		noncoding transcript	Het
Actl7b	T	C	4: 56,740,972 (GRCm39)	I129V	probably benign	Het
Adipor2	A	G	6: 119,336,047 (GRCm39)	L225P	probably benign	Het
Arhgap25	A	G	6: 87,473,053 (GRCm39)	F35L	probably benign	Het
Asah2	A	T	19: 32,030,258 (GRCm39)	M138K	probably damaging	Het
Asxl1	T	A	2: 153,243,905 (GRCm39)	M1486K	probably damaging	Het
B4galt4	T	A	16: 38,572,658 (GRCm39)	S114R	probably benign	Het
Brpf3	T	G	17: 29,040,233 (GRCm39)	S885A	probably benign	Het
Cacna1g	G	T	11: 94,302,298 (GRCm39)	H1944N	possibly damaging	Het
Cby2	T	A	14: 75,820,546 (GRCm39)	Y393F	probably damaging	Het
Ccdc110	G	A	8: 46,396,245 (GRCm39)	C712Y	probably damaging	Het
Ccdc175	A	T	12: 72,182,822 (GRCm39)	I399N	probably damaging	Het
Cct8l1	A	T	5: 25,722,754 (GRCm39)	T490S	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,932,787 (GRCm39)	N371D	probably damaging	Het
Cpeb1	A	T	7: 81,005,695 (GRCm39)	H381Q	probably benign	Het
Cyp2d40	T	A	15: 82,645,763 (GRCm39)	I81F	possibly damaging	Het
Dscc1	A	T	15: 54,943,654 (GRCm39)	D405E	probably benign	Het
Ece1	A	G	4: 137,672,464 (GRCm39)	D369G	probably benign	Het
Exd2	T	C	12: 80,522,592 (GRCm39)	V17A	possibly damaging	Het
Flnc	T	C	6: 29,445,038 (GRCm39)	V719A	possibly damaging	Het
Fscb	C	T	12: 64,520,464 (GRCm39)	G334D	probably damaging	Het
Glud1	T	C	14: 34,043,782 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,119,072 (GRCm39)	Y180*	probably null	Het
Grip2	G	A	6: 91,759,413 (GRCm39)	P347L	possibly damaging	Het
H1f3	T	C	13: 23,739,576 (GRCm39)	S105P	probably damaging	Het
H60b	C	T	10: 22,164,644 (GRCm39)		probably benign	Het
Iqca1l	A	G	5: 24,755,596 (GRCm39)		probably null	Het
Itga6	T	C	2: 71,652,788 (GRCm39)	V217A	probably benign	Het
Kndc1	G	A	7: 139,503,946 (GRCm39)	W1083*	probably null	Het
Limch1	A	T	5: 67,184,850 (GRCm39)	D613V	probably damaging	Het
Lpl	T	A	8: 69,349,403 (GRCm39)	C310S	probably damaging	Het
Marchf1	T	A	8: 66,839,876 (GRCm39)	C220S	probably benign	Het
Mbd5	A	C	2: 49,164,623 (GRCm39)	H308P	probably damaging	Het
Med13	T	C	11: 86,167,746 (GRCm39)	D2003G	probably damaging	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mstn	A	T	1: 53,101,267 (GRCm39)	T115S	probably benign	Het
Mtcl2	G	T	2: 156,872,489 (GRCm39)	Q953K	probably benign	Het
Nfil3	A	G	13: 53,122,050 (GRCm39)	S285P	probably damaging	Het
Odad4	C	A	11: 100,440,742 (GRCm39)	N74K	probably benign	Het
Or10j3	A	C	1: 173,031,796 (GRCm39)	Y291S	probably damaging	Het
Or51a24	A	G	7: 103,733,502 (GRCm39)	S262P	probably damaging	Het
Otof	A	G	5: 30,552,026 (GRCm39)	V321A	probably benign	Het
Pcdha8	G	T	18: 37,127,626 (GRCm39)	A703S	probably damaging	Het
Pcdhb18	A	G	18: 37,623,507 (GRCm39)	Y279C	probably damaging	Het
Pdgfa	T	C	5: 138,979,051 (GRCm39)	D51G	probably benign	Het
Pdzd8	A	G	19: 59,289,292 (GRCm39)	Y703H	probably damaging	Het
Pecr	G	T	1: 72,306,594 (GRCm39)	P229Q	probably damaging	Het
Phkg1	G	T	5: 129,902,114 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,051,150 (GRCm39)	H356Q	probably benign	Het
Polr1b	T	C	2: 128,947,248 (GRCm39)	I191T	probably benign	Het
Ppp4r3a	A	G	12: 101,049,026 (GRCm39)	L35P	possibly damaging	Het
Rasa2	C	T	9: 96,426,470 (GRCm39)	G792D	probably benign	Het
Rps11-ps4	T	C	12: 51,344,406 (GRCm39)		noncoding transcript	Het
Sema3g	A	G	14: 30,942,666 (GRCm39)	D89G	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slfn8	A	G	11: 82,908,219 (GRCm39)	V108A	probably damaging	Het
Smg9	T	A	7: 24,107,019 (GRCm39)	M221K	possibly damaging	Het
Sos1	A	G	17: 80,705,660 (GRCm39)	S1304P	probably damaging	Het
Sqle	C	A	15: 59,189,688 (GRCm39)	A110E	possibly damaging	Het
Stab2	G	A	10: 86,743,235 (GRCm39)	Q1154*	probably null	Het
Taf4b	A	G	18: 14,937,577 (GRCm39)	T217A	probably benign	Het
Tex15	T	C	8: 34,072,760 (GRCm39)	V2769A	probably benign	Het
Tmem156	A	T	5: 65,237,502 (GRCm39)	C53S	probably damaging	Het
Tmtc3	T	A	10: 100,293,001 (GRCm39)	K452N	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	T	C	7: 46,306,376 (GRCm39)	E195G	probably damaging	Het
Trpc6	T	A	9: 8,609,852 (GRCm39)	Y107N	possibly damaging	Het
Tsga10	G	A	1: 37,874,606 (GRCm39)	T93I	probably damaging	Het
Ttn	T	A	2: 76,571,778 (GRCm39)	N26372Y	probably damaging	Het
Tubd1	T	C	11: 86,446,128 (GRCm39)	L256P	possibly damaging	Het
Txnrd2	C	G	16: 18,259,569 (GRCm39)	A126G	probably benign	Het
Vmn1r210	T	G	13: 23,011,374 (GRCm39)	K304T	probably benign	Het
Vps25	T	C	11: 101,149,655 (GRCm39)	S160P	probably benign	Het
Vrk3	T	A	7: 44,424,900 (GRCm39)	D438E	probably benign	Het
Vwa5b1	A	G	4: 138,309,066 (GRCm39)	L708P	probably benign	Het
Washc3	C	T	10: 88,055,124 (GRCm39)	Q105*	probably null	Het
Wdr83os	T	A	8: 85,807,410 (GRCm39)		probably benign	Het
Wwc1	T	C	11: 35,758,123 (GRCm39)	H741R	probably benign	Het
Zan	T	C	5: 137,434,575 (GRCm39)		probably benign	Het
Zdhhc4	A	T	5: 143,311,931 (GRCm39)	L14I	possibly damaging	Het
Zfp568	T	A	7: 29,697,195 (GRCm39)	D38E	probably damaging	Het

Other mutations in Fam111a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02565:Fam111a	APN	19	12,564,318 (GRCm39)	missense	probably damaging	0.96
IGL02721:Fam111a	APN	19	12,564,336 (GRCm39)	missense	probably benign	0.04
IGL02885:Fam111a	APN	19	12,561,488 (GRCm39)	critical splice donor site	probably null
R0121:Fam111a	UTSW	19	12,561,444 (GRCm39)	missense	probably benign	0.00
R0524:Fam111a	UTSW	19	12,565,412 (GRCm39)	missense	probably damaging	1.00
R1553:Fam111a	UTSW	19	12,564,682 (GRCm39)	missense	possibly damaging	0.93
R1583:Fam111a	UTSW	19	12,565,142 (GRCm39)	missense	probably damaging	0.99
R1837:Fam111a	UTSW	19	12,564,816 (GRCm39)	missense	probably benign	0.23
R2945:Fam111a	UTSW	19	12,565,230 (GRCm39)	nonsense	probably null
R3732:Fam111a	UTSW	19	12,564,914 (GRCm39)	missense	possibly damaging	0.57
R4772:Fam111a	UTSW	19	12,565,057 (GRCm39)	missense	probably benign
R4894:Fam111a	UTSW	19	12,565,913 (GRCm39)	missense	probably benign	0.12
R6177:Fam111a	UTSW	19	12,564,746 (GRCm39)	missense	probably damaging	1.00
R6269:Fam111a	UTSW	19	12,565,807 (GRCm39)	missense	probably benign	0.01
R6330:Fam111a	UTSW	19	12,564,266 (GRCm39)	missense	probably damaging	1.00
R6390:Fam111a	UTSW	19	12,565,524 (GRCm39)	nonsense	probably null
R6448:Fam111a	UTSW	19	12,565,701 (GRCm39)	missense	probably benign	0.04
R6813:Fam111a	UTSW	19	12,564,706 (GRCm39)	missense	probably damaging	1.00
R7620:Fam111a	UTSW	19	12,565,301 (GRCm39)	missense	possibly damaging	0.73
R8291:Fam111a	UTSW	19	12,564,943 (GRCm39)	missense	probably benign	0.01
X0010:Fam111a	UTSW	19	12,565,592 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGTACAGTGGTCCCTCAAAG -3'
(R):5'- CCCTCAGAAATCTATGCTCAGC -3'

Sequencing Primer
(F):5'- TGTACAGTGGTCCCTCAAAGTAGTAG -3'
(R):5'- GCTCAGCATTTCTACATTCTGAAC -3'

Posted On

2015-12-29