Mutagenetix > Incidental Mutation

Incidental Mutation 'R9656:Fam114a1'

727315

Institutional Source

Beutler Lab

Gene Symbol

Fam114a1

Ensembl Gene

ENSMUSG00000029185

Gene Name

family with sequence similarity 114, member A1

Synonyms

1190001N04Rik, 9130005N14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9656 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65127459-65199217 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65163246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 181 (I181T)

Ref Sequence

ENSEMBL: ENSMUSP00000031080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031080] [ENSMUST00000139366]

AlphaFold

Q9D281

Predicted Effect

probably benign
Transcript: ENSMUST00000031080
AA Change: I181T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000031080
Gene: ENSMUSG00000029185
AA Change: I181T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000139366

SMART Domains

Protein: ENSMUSP00000119284
Gene: ENSMUSG00000029185

Domain	Start	End	E-Value	Type
Pfam:DUF719	121	177	7e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	G	A	8: 10,037,991 (GRCm39)	G196E	possibly damaging	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Atxn2	C	T	5: 121,922,061 (GRCm39)	T635I	possibly damaging	Het
Bbs10	T	A	10: 111,135,545 (GRCm39)	N219K	probably benign	Het
Bsn	T	A	9: 107,994,407 (GRCm39)	T623S	probably benign	Het
Btnl9	T	C	11: 49,060,008 (GRCm39)	D580G	probably damaging	Het
Cckar	A	G	5: 53,857,318 (GRCm39)	L364P	probably damaging	Het
Ccn5	A	G	2: 163,670,985 (GRCm39)	D164G	probably benign	Het
Cfap46	A	T	7: 139,235,816 (GRCm39)	M631K		Het
Col1a1	T	A	11: 94,839,372 (GRCm39)	S1006T	unknown	Het
Cpe	T	C	8: 65,047,980 (GRCm39)	Y428C	probably damaging	Het
Cyp2d26	C	A	15: 82,677,059 (GRCm39)	V122L	probably benign	Het
Fam83b	A	G	9: 76,452,863 (GRCm39)	V68A	probably benign	Het
Fanca	A	C	8: 124,031,482 (GRCm39)	V403G	probably benign	Het
Grin2a	T	C	16: 9,397,471 (GRCm39)	H872R	possibly damaging	Het
Grpel2	G	T	18: 61,859,361 (GRCm39)	R4S	probably benign	Het
Gstm1	T	C	3: 107,925,072 (GRCm39)	Y7C	probably damaging	Het
Hace1	A	T	10: 45,547,545 (GRCm39)	I497F	probably benign	Het
Hspg2	T	C	4: 137,279,196 (GRCm39)	V3093A	probably benign	Het
Ighv3-4	A	T	12: 114,217,295 (GRCm39)	F99I	possibly damaging	Het
Ints3	T	C	3: 90,299,839 (GRCm39)	M963V	probably null	Het
Krt12	T	C	11: 99,309,471 (GRCm39)	E263G		Het
L1td1	T	C	4: 98,622,223 (GRCm39)	F262L	probably benign	Het
Lrp2bp	A	G	8: 46,466,158 (GRCm39)	H110R	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Ncoa6	A	G	2: 155,274,846 (GRCm39)	I135T	probably damaging	Het
Nfatc3	G	A	8: 106,830,766 (GRCm39)	R695H	probably damaging	Het
Nkx1-2	T	A	7: 132,201,228 (GRCm39)	K10*	probably null	Het
Or2t44	G	A	11: 58,677,635 (GRCm39)	A192T	possibly damaging	Het
Or4f54	A	T	2: 111,122,633 (GRCm39)	T7S	probably benign	Het
Or5b110-ps1	T	C	19: 13,260,035 (GRCm39)	H129R	possibly damaging	Het
Or5b21	A	G	19: 12,839,247 (GRCm39)	Y36C	probably damaging	Het
Otog	A	G	7: 45,959,567 (GRCm39)	T719A	probably damaging	Het
Prkdc	T	G	16: 15,617,818 (GRCm39)	I3216M	probably benign	Het
Pygm	A	G	19: 6,438,187 (GRCm39)	D252G	probably benign	Het
Rae1	T	A	2: 172,854,590 (GRCm39)	Y332*	probably null	Het
Rbm12	A	T	2: 155,940,121 (GRCm39)	D50E	unknown	Het
Rbm6	G	A	9: 107,656,778 (GRCm39)	R1000W	probably damaging	Het
Rd3l	A	T	12: 111,946,614 (GRCm39)	V54E	possibly damaging	Het
Rft1	T	C	14: 30,404,714 (GRCm39)	V370A	probably benign	Het
Rfx8	T	C	1: 39,709,679 (GRCm39)	I449M	probably benign	Het
Satb1	A	T	17: 52,112,264 (GRCm39)	S117T	possibly damaging	Het
Slc24a2	T	C	4: 86,968,144 (GRCm39)	Y370C	probably damaging	Het
Slc5a4b	C	A	10: 75,944,391 (GRCm39)	V85L	probably damaging	Het
Snrpn	A	T	7: 59,635,715 (GRCm39)	V95E	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Spata33	A	T	8: 123,948,758 (GRCm39)	N130I	possibly damaging	Het
Spmip2	T	A	3: 79,313,183 (GRCm39)	F86I	probably benign	Het
Tap1	A	G	17: 34,412,525 (GRCm39)	S521G	probably damaging	Het
Tbc1d13	C	T	2: 30,032,429 (GRCm39)	T180I	possibly damaging	Het
Tgm7	G	A	2: 120,940,191 (GRCm39)		probably benign	Het
Tiam1	A	G	16: 89,664,459 (GRCm39)	M583T	probably damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Vmn1r43	A	T	6: 89,847,440 (GRCm39)	H15Q	possibly damaging	Het
Zfp329	A	T	7: 12,544,417 (GRCm39)	V369E	probably damaging	Het
Zfp467	T	A	6: 48,419,603 (GRCm39)	E35V	possibly damaging	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
R5460:Fam114a1	UTSW	5	65,185,776 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- TGTGAGATTAGTCTAGGGTCACAGAC -3'
(R):5'- ACATTGGTGAGGGCTGACAG -3'

Sequencing Primer
(F):5'- CAGACTGTGCAGATTGTAATGTCTC -3'
(R):5'- TGACAGCATGCCTCTCGAC -3'

Posted On

2022-10-06