Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Fam111a'

177291

Institutional Source

Beutler Lab

Gene Symbol

Fam111a

Ensembl Gene

ENSMUSG00000024691

Gene Name

family with sequence similarity 111, member A

Synonyms

4632417K18Rik

MMRRC Submission

039620-MU

Accession Numbers

Essential gene?

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

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12550874-12567133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12565142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 297 (V297D)

Ref Sequence

ENSEMBL: ENSMUSP00000123598 (fasta)

Gene Model

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

AlphaFold

Q9D2L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000025595
AA Change: V341D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: V341D

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

probably damaging
Transcript: ENSMUST00000144662
AA Change: V341D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: V341D

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

probably damaging
Transcript: ENSMUST00000151307
AA Change: V297D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: V297D

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

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Tial1	A	G	7: 128,045,634 (GRCm39)	Y317H	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly 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
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
R4773:Fam111a	UTSW	19	12,565,772 (GRCm39)	missense	possibly damaging	0.91
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'- CCAGTTGATGAGTTAGAGGGCAAGC -3'
(R):5'- GTTCCAGGACAGCATAGTCAAGGTG -3'

Sequencing Primer
(F):5'- GAACCCCAGAGTAGTCTCTGTC -3'
(R):5'- GGACAGCATAGTCAAGGTGTTTATC -3'

Posted On

2014-04-24