Mutagenetix > Incidental Mutation

Incidental Mutation 'R4894:Fam111a'

377526

Institutional Source

Beutler Lab

Gene Symbol

Fam111a

Ensembl Gene

ENSMUSG00000024691

Gene Name

family with sequence similarity 111, member A

Synonyms

4632417K18Rik

Accession Numbers

Essential gene?

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

Stock #

R4894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12550874-12567133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 12565913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 554 (T554R)

Ref Sequence

ENSEMBL: ENSMUSP00000123598 (fasta)

Gene Model

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

AlphaFold

Q9D2L9

Predicted Effect

probably benign
Transcript: ENSMUST00000025595
AA Change: T598R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: T598R

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 benign
Transcript: ENSMUST00000144662
AA Change: T598R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: T598R

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 benign
Transcript: ENSMUST00000151307
AA Change: T554R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: T554R

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	C	A	17: 43,609,975 (GRCm39)	Y176*	probably null	Het
Akap13	T	A	7: 75,375,068 (GRCm39)	M1900K	possibly damaging	Het
Ankrd36	A	G	11: 5,585,332 (GRCm39)	E381G	probably damaging	Het
Ap3s1	T	C	18: 46,891,183 (GRCm39)		probably null	Het
Cacna1e	G	T	1: 154,364,551 (GRCm39)	S341*	probably null	Het
Camk1d	G	A	2: 5,359,539 (GRCm39)	S161L	probably damaging	Het
Cdh23	G	T	10: 60,173,630 (GRCm39)	H1619Q	probably benign	Het
Chd7	T	A	4: 8,838,629 (GRCm39)	I1276N	probably damaging	Het
Clca3a1	A	G	3: 144,719,662 (GRCm39)	V436A	probably damaging	Het
Ctcfl	G	A	2: 172,959,196 (GRCm39)	P177S	probably benign	Het
Dab2ip	A	G	2: 35,620,539 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Epc1	A	T	18: 6,449,011 (GRCm39)	S495R	probably benign	Het
Espl1	A	G	15: 102,230,758 (GRCm39)		probably null	Het
Eya4	T	C	10: 22,985,753 (GRCm39)	E583G	possibly damaging	Het
Fbh1	A	T	2: 11,767,771 (GRCm39)	I359N	probably damaging	Het
Fer1l6	T	C	15: 58,490,751 (GRCm39)	C1023R	probably damaging	Het
Helz2	G	C	2: 180,877,940 (GRCm39)	P953A	probably benign	Het
Ifi204	G	T	1: 173,587,808 (GRCm39)	S117Y	probably damaging	Het
Ift70a1	T	C	2: 75,810,088 (GRCm39)	*665W	probably null	Het
Igfn1	G	A	1: 135,882,520 (GRCm39)	T2775M	probably damaging	Het
Igsf9	A	G	1: 172,325,634 (GRCm39)	T1101A	probably benign	Het
Ipo13	A	C	4: 117,760,638 (GRCm39)	I614S	probably damaging	Het
Ipo13	A	G	4: 117,761,687 (GRCm39)	I476T	possibly damaging	Het
Kdm2b	C	A	5: 123,079,030 (GRCm39)	E308*	probably null	Het
Klhl20	A	T	1: 160,937,102 (GRCm39)	M91K	possibly damaging	Het
Klrb1f	T	C	6: 129,030,151 (GRCm39)	F64L	probably benign	Het
Ldlrad3	C	T	2: 101,888,293 (GRCm39)	C106Y	probably damaging	Het
Lilra6	T	C	7: 3,915,530 (GRCm39)	T161A	probably benign	Het
Lrriq1	A	T	10: 102,997,613 (GRCm39)	M1334K	possibly damaging	Het
Mepe	C	G	5: 104,473,268 (GRCm39)	P3R	probably damaging	Het
Mgat4e	A	G	1: 134,468,856 (GRCm39)	V396A	probably benign	Het
Nfx1	T	G	4: 40,996,877 (GRCm39)	S651A	probably damaging	Het
Or10ak13	A	T	4: 118,639,483 (GRCm39)	C100S	probably damaging	Het
Or2w6	T	C	13: 21,843,352 (GRCm39)	N47S	probably damaging	Het
Or4c109	T	C	2: 88,817,783 (GRCm39)	I254M	possibly damaging	Het
Rag2	T	C	2: 101,460,022 (GRCm39)	S111P	probably damaging	Het
Rai1	T	A	11: 60,077,572 (GRCm39)	D545E	probably damaging	Het
Ralgps1	A	G	2: 33,033,115 (GRCm39)	V498A	possibly damaging	Het
Rasal2	G	A	1: 157,020,374 (GRCm39)	S205L	probably damaging	Het
Rec8	T	C	14: 55,862,787 (GRCm39)	L582P	probably damaging	Het
Retn	G	A	8: 3,707,358 (GRCm39)	R106H	probably damaging	Het
Rnf112	A	G	11: 61,343,488 (GRCm39)	L116P	probably damaging	Het
Rnf213	T	C	11: 119,372,066 (GRCm39)	Y4885H	probably damaging	Het
Sacm1l	A	G	9: 123,411,409 (GRCm39)	I399M	probably benign	Het
Sez6	G	T	11: 77,866,086 (GRCm39)	G738V	probably damaging	Het
Spata17	A	G	1: 186,872,643 (GRCm39)	V56A	probably benign	Het
Spata31d1a	A	T	13: 59,849,542 (GRCm39)	V862D	probably damaging	Het
Sptb	A	G	12: 76,671,768 (GRCm39)		probably null	Het
Srpk2	C	A	5: 23,750,527 (GRCm39)	G59W	probably damaging	Het
Tyro3	T	C	2: 119,632,779 (GRCm39)	S96P	probably damaging	Het
Ube2v1	A	G	2: 167,452,280 (GRCm39)	S108P	probably damaging	Het
Usp2	C	T	9: 43,987,125 (GRCm39)	S141L	probably benign	Het
Vamp5	T	C	6: 72,347,181 (GRCm39)	D46G	possibly damaging	Het
Vmn1r23	T	A	6: 57,903,310 (GRCm39)	Q156L	probably benign	Het
Vmn2r6	C	T	3: 64,454,829 (GRCm39)	S490N	probably benign	Het
Vps39	A	T	2: 120,183,440 (GRCm39)	I10N	probably damaging	Het
Vwf	C	T	6: 125,622,897 (GRCm39)	Q1755*	probably null	Het
Wdfy4	A	T	14: 32,877,717 (GRCm39)	H82Q	probably benign	Het
Wdr24	T	C	17: 26,045,101 (GRCm39)	Y279H	probably damaging	Het
Wdr72	A	G	9: 74,117,843 (GRCm39)	T852A	probably benign	Het
Zfp1	T	A	8: 112,396,355 (GRCm39)	C92*	probably null	Het
Zfp1004	T	A	2: 150,033,899 (GRCm39)	C104*	probably null	Het
Zfp426	A	T	9: 20,386,369 (GRCm39)		probably benign	Het
Zfp442	C	T	2: 150,253,130 (GRCm39)		probably null	Het
Zfp74	T	C	7: 29,635,470 (GRCm39)		probably benign	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
R4773:Fam111a	UTSW	19	12,565,772 (GRCm39)	missense	possibly damaging	0.91
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'- CTCTGATGTGGTTACTTATGACAC -3'
(R):5'- GCCTGGTACCTAGGACGTAATC -3'

Sequencing Primer
(F):5'- CATACCAGGCTGGAGTTT -3'
(R):5'- CTGGTACCTAGGACGTAATCTAGAAC -3'

Posted On

2016-03-17