Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Fam111a'

205448

Institutional Source

Beutler Lab

Gene Symbol

Fam111a

Ensembl Gene

ENSMUSG00000024691

Gene Name

family with sequence similarity 111, member A

Synonyms

4632417K18Rik

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

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

Stock #

R1837 (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 12564816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 188 (S188R)

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: S232R

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025595
Gene: ENSMUSG00000024691
AA Change: S232R

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: S232R

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119518
Gene: ENSMUSG00000024691
AA Change: S232R

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: S188R

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000123598
Gene: ENSMUSG00000024691
AA Change: S188R

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

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	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
R1583:Fam111a	UTSW	19	12,565,142 (GRCm39)	missense	probably damaging	0.99
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'- AAGCATCTACCAATTACGTCCG -3'
(R):5'- CCCAAAGTGTTCTTTATGCACTTTG -3'

Sequencing Primer
(F):5'- CAATTACGTCCGATTTTGCATTCATG -3'
(R):5'- GCACTTTGAATAAGGAAGCTTTCTTC -3'

Posted On

2014-06-23