Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Fam111a'

356405

Institutional Source

Beutler Lab

Gene Symbol

Fam111a

Ensembl Gene

ENSMUSG00000024691

Gene Name

family with sequence similarity 111, member A

Synonyms

4632417K18Rik

MMRRC Submission

040720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12550874-12567133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12564914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 221 (L221P)

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: L265P

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: L265P

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: L265P

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: L265P

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: L221P

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: L221P

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: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Afg3l1	G	A	8: 124,227,972 (GRCm39)	G547D	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Chrna3	T	C	9: 54,923,178 (GRCm39)	K210R	probably benign	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,503,379 (GRCm39)	R424Q	probably null	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Ddx4	T	A	13: 112,748,516 (GRCm39)	I487F	possibly damaging	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,833,014 (GRCm39)	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	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
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'- TATGGCTTCAAAGGAGAGACC -3'
(R):5'- ACCCTCGAAAGATGTTTGACC -3'

Sequencing Primer
(F):5'- GACCATCAGGGACACTCTGAG -3'
(R):5'- GATGTTTGACCACTTTAACAGGAG -3'

Posted On

2015-11-11