Mutagenetix > Incidental Mutation

Incidental Mutation 'R5460:Fam114a1'

432962

Institutional Source

Beutler Lab

Gene Symbol

Fam114a1

Ensembl Gene

ENSMUSG00000029185

Gene Name

family with sequence similarity 114, member A1

Synonyms

1190001N04Rik, 9130005N14Rik

MMRRC Submission

042849-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5460 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65127459-65199217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65185776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 366 (F366I)

Ref Sequence

ENSEMBL: ENSMUSP00000031080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031080]

AlphaFold

Q9D281

Predicted Effect

probably damaging
Transcript: ENSMUST00000031080
AA Change: F366I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: F366I

Domain	Start	End	E-Value	Type
Pfam:DUF719	125	300	5e-65	PFAM
low complexity region	355	365	N/A	INTRINSIC
low complexity region	413	432	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,238 (GRCm39)	M191K	probably benign	Het
Actn1	T	C	12: 80,230,342 (GRCm39)	N304S	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adamtsl2	T	A	2: 26,985,410 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,572,377 (GRCm39)	E4928G	possibly damaging	Het
Alms1	T	A	6: 85,673,713 (GRCm39)	C3103S	probably benign	Het
Appl2	T	A	10: 83,438,696 (GRCm39)	I578F	probably benign	Het
Atp10b	T	C	11: 43,121,282 (GRCm39)	S982P	probably benign	Het
Brd10	G	T	19: 29,732,250 (GRCm39)	P254Q	probably damaging	Het
Capn7	T	C	14: 31,090,160 (GRCm39)		probably null	Het
Cd200r3	A	G	16: 44,778,093 (GRCm39)	T166A	possibly damaging	Het
Dctn6	C	T	8: 34,572,135 (GRCm39)		probably null	Het
Duxf4	G	A	10: 58,071,717 (GRCm39)	H166Y	possibly damaging	Het
Fam98b	A	T	2: 117,089,737 (GRCm39)	S85C	probably damaging	Het
Fat3	T	A	9: 15,830,463 (GRCm39)	N4344Y	probably damaging	Het
Fhl3	T	G	4: 124,599,796 (GRCm39)	C92W	probably damaging	Het
Flrt1	T	C	19: 7,073,105 (GRCm39)	T481A	probably damaging	Het
Gng2	G	T	14: 19,941,426 (GRCm39)	N5K	probably benign	Het
Iqcm	A	T	8: 76,441,417 (GRCm39)	D230V	probably benign	Het
Limk2	T	C	11: 3,302,332 (GRCm39)	I176V	probably benign	Het
Lrrk2	T	A	15: 91,698,847 (GRCm39)		probably null	Het
Maml1	T	C	11: 50,157,180 (GRCm39)	T332A	probably benign	Het
Matcap2	T	C	9: 22,351,216 (GRCm39)	F453L	probably benign	Het
Mbd1	T	C	18: 74,402,581 (GRCm39)	F28L	probably benign	Het
Morf4l1	G	A	9: 89,977,183 (GRCm39)	T246I	probably benign	Het
Mtres1	T	C	10: 43,408,861 (GRCm39)	K94R	probably benign	Het
Naa12	C	T	18: 80,255,138 (GRCm39)	A144V	probably damaging	Het
Ndufaf1	T	G	2: 119,490,958 (GRCm39)	D34A	probably benign	Het
Or4a77	T	A	2: 89,487,414 (GRCm39)	I124F	probably damaging	Het
Or4c114	C	T	2: 88,905,208 (GRCm39)	V76I	probably benign	Het
Patl1	C	T	19: 11,913,082 (GRCm39)	R542C	possibly damaging	Het
Pcdha2	T	C	18: 37,072,474 (GRCm39)	V35A	probably damaging	Het
Phf11b	G	A	14: 59,568,713 (GRCm39)	P67S	probably benign	Het
Plxnd1	T	C	6: 115,934,609 (GRCm39)	I1775V	probably damaging	Het
Ryr1	T	A	7: 28,771,386 (GRCm39)	T2552S	probably damaging	Het
Scai	A	T	2: 38,973,585 (GRCm39)	L52H	probably damaging	Het
Scai	G	C	2: 38,973,586 (GRCm39)	L52V	probably damaging	Het
Stag1	A	T	9: 100,838,506 (GRCm39)		probably null	Het
Tgs1	A	G	4: 3,586,170 (GRCm39)	K349R	probably benign	Het
Tpbgl	T	C	7: 99,274,961 (GRCm39)	I299V	probably benign	Het
Ttc3	A	G	16: 94,258,241 (GRCm39)	T1325A	probably benign	Het
Ubxn11	A	T	4: 133,852,396 (GRCm39)	E210D	probably damaging	Het
Unc13c	T	C	9: 73,453,271 (GRCm39)	I1840V	probably benign	Het
Zfp74	A	T	7: 29,635,316 (GRCm39)	F131I	probably benign	Het

Other mutations in Fam114a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00674:Fam114a1	APN	5	65,137,347 (GRCm39)	missense	probably benign	0.31
IGL01013:Fam114a1	APN	5	65,188,738 (GRCm39)	critical splice donor site	probably null
IGL02032:Fam114a1	APN	5	65,172,714 (GRCm39)	missense	probably benign	0.11
IGL02117:Fam114a1	APN	5	65,187,465 (GRCm39)	missense	probably benign	0.08
IGL02388:Fam114a1	APN	5	65,166,323 (GRCm39)	unclassified	probably benign
IGL02563:Fam114a1	APN	5	65,163,491 (GRCm39)	splice site	probably null
IGL02803:Fam114a1	APN	5	65,163,135 (GRCm39)	splice site	probably benign
R1183:Fam114a1	UTSW	5	65,191,731 (GRCm39)	missense	probably damaging	1.00
R2073:Fam114a1	UTSW	5	65,153,247 (GRCm39)	critical splice donor site	probably null
R2086:Fam114a1	UTSW	5	65,137,402 (GRCm39)	missense	probably benign	0.39
R3834:Fam114a1	UTSW	5	65,163,416 (GRCm39)	missense	possibly damaging	0.65
R4519:Fam114a1	UTSW	5	65,163,225 (GRCm39)	missense	probably benign
R4749:Fam114a1	UTSW	5	65,166,409 (GRCm39)	missense	probably damaging	1.00
R4937:Fam114a1	UTSW	5	65,137,070 (GRCm39)	missense	probably damaging	0.97
R5038:Fam114a1	UTSW	5	65,166,388 (GRCm39)	missense	probably damaging	1.00
R5096:Fam114a1	UTSW	5	65,137,234 (GRCm39)	missense	probably benign
R5368:Fam114a1	UTSW	5	65,163,452 (GRCm39)	missense	possibly damaging	0.52
R5734:Fam114a1	UTSW	5	65,166,389 (GRCm39)	missense	probably damaging	1.00
R6242:Fam114a1	UTSW	5	65,188,695 (GRCm39)	missense	probably damaging	0.98
R6950:Fam114a1	UTSW	5	65,137,322 (GRCm39)	missense	possibly damaging	0.88
R7460:Fam114a1	UTSW	5	65,196,050 (GRCm39)	missense	possibly damaging	0.51
R7570:Fam114a1	UTSW	5	65,187,402 (GRCm39)	splice site	probably null
R8913:Fam114a1	UTSW	5	65,185,821 (GRCm39)	missense	possibly damaging	0.77
R9095:Fam114a1	UTSW	5	65,188,733 (GRCm39)	missense	probably benign	0.08
R9171:Fam114a1	UTSW	5	65,191,713 (GRCm39)	critical splice acceptor site	probably null
R9203:Fam114a1	UTSW	5	65,137,300 (GRCm39)	missense	probably damaging	1.00
R9318:Fam114a1	UTSW	5	65,153,227 (GRCm39)	missense	possibly damaging	0.77
R9640:Fam114a1	UTSW	5	65,166,394 (GRCm39)	missense	probably damaging	0.99
R9656:Fam114a1	UTSW	5	65,163,246 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACGTGACATCCATCTTCCC -3'
(R):5'- TTACTGACCTCAGACGCCTC -3'

Sequencing Primer
(F):5'- TGACATCCATCTTCCCAGGCAG -3'
(R):5'- CCCCCTGTTATGTCGTGGG -3'

Posted On

2016-10-06