Mutagenetix > Incidental Mutation

Incidental Mutation 'R2939:Faiml'

264590

Institutional Source

Beutler Lab

Gene Symbol

Faiml

Ensembl Gene

ENSMUSG00000096316

Gene Name

Fas apoptotic inhibitory molecule like

Synonyms

Gm6432

MMRRC Submission

040516-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.417) question?

Stock #

R2939 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99111429-99119292 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99114527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 121 (C121R)

Ref Sequence

ENSEMBL: ENSMUSP00000139801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178051] [ENSMUST00000188555]

AlphaFold

J3QPY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000178051
AA Change: C121R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137541
Gene: ENSMUSG00000096316
AA Change: C121R

Domain	Start	End	E-Value	Type
Pfam:FAIM1	2	174	2.2e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000188555
AA Change: C121R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139801
Gene: ENSMUSG00000096316
AA Change: C121R

Domain	Start	End	E-Value	Type
Pfam:FAIM1	1	176	1.2e-83	PFAM

Meta Mutation Damage Score

0.9304

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,409 (GRCm39)	Y911H	possibly damaging	Het
Arhgef26	A	C	3: 62,288,331 (GRCm39)	K467T	possibly damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Atm	T	C	9: 53,406,011 (GRCm39)	Y1219C	probably damaging	Het
Azin2	C	T	4: 128,828,397 (GRCm39)	C270Y	probably benign	Het
Brsk1	A	T	7: 4,711,139 (GRCm39)	I545F	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cfap410	A	G	10: 77,817,507 (GRCm39)	N78S	probably benign	Het
Cfap69	G	A	5: 5,694,432 (GRCm39)	A143V	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Col5a3	T	C	9: 20,706,954 (GRCm39)	K714R	unknown	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dagla	A	C	19: 10,233,728 (GRCm39)	F382C	probably damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif5	T	C	12: 111,506,713 (GRCm39)	C102R	probably damaging	Het
Fhdc1	A	G	3: 84,364,577 (GRCm39)	V223A	possibly damaging	Het
Garin4	T	C	1: 190,896,103 (GRCm39)	D180G	possibly damaging	Het
Gpatch8	A	G	11: 102,399,010 (GRCm39)	V74A	unknown	Het
Haghl	A	G	17: 26,004,060 (GRCm39)	V8A	possibly damaging	Het
Ksr1	A	G	11: 78,936,007 (GRCm39)		probably null	Het
Lama5	A	C	2: 179,840,747 (GRCm39)	Y584D	probably damaging	Het
Lgi4	C	T	7: 30,767,253 (GRCm39)	R427*	probably null	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nherf1	C	T	11: 115,071,270 (GRCm39)	R335C	probably damaging	Het
Nmnat2	C	A	1: 152,950,474 (GRCm39)	S53Y	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcsk7	C	T	9: 45,827,322 (GRCm39)	A363V	probably damaging	Het
Pdrg1	C	T	2: 152,854,355 (GRCm39)	G62R	probably damaging	Het
Pdzd7	A	G	19: 45,033,862 (GRCm39)	I74T	possibly damaging	Het
Plcb4	T	C	2: 135,781,123 (GRCm39)		probably benign	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Rph3a	A	G	5: 121,118,212 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc1a6	G	T	10: 78,650,448 (GRCm39)	*562L	probably null	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Slc45a3	A	G	1: 131,905,637 (GRCm39)	E206G	probably damaging	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Smpd3	A	G	8: 106,984,039 (GRCm39)	V560A	probably benign	Het
Spata31g1	A	G	4: 42,972,946 (GRCm39)	K760E	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Suco	A	G	1: 161,676,220 (GRCm39)	I386T	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmprss11e	G	A	5: 86,869,266 (GRCm39)	R96W	probably damaging	Het
Trim63	T	C	4: 134,050,308 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Unc79	C	T	12: 102,957,684 (GRCm39)	T33I	probably damaging	Het
Usp47	G	A	7: 111,681,743 (GRCm39)	S518N	probably damaging	Het
Vmn2r22	T	A	6: 123,614,594 (GRCm39)	D332V	probably damaging	Het
Vmn2r55	A	G	7: 12,385,832 (GRCm39)	L716P	probably damaging	Het
Zfp558	T	C	9: 18,367,924 (GRCm39)	N288S	possibly damaging	Het

Other mutations in Faiml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01797:Faiml	APN	9	99,116,442 (GRCm39)	missense	probably damaging	0.99
R1745:Faiml	UTSW	9	99,116,511 (GRCm39)	missense	probably benign	0.00
R2137:Faiml	UTSW	9	99,114,545 (GRCm39)	missense	probably benign	0.00
R2275:Faiml	UTSW	9	99,111,612 (GRCm39)	missense	probably benign	0.03
R2940:Faiml	UTSW	9	99,114,527 (GRCm39)	missense	probably damaging	0.96
R3081:Faiml	UTSW	9	99,114,527 (GRCm39)	missense	probably damaging	0.96
R6258:Faiml	UTSW	9	99,114,513 (GRCm39)	missense	possibly damaging	0.80
R7071:Faiml	UTSW	9	99,118,400 (GRCm39)	start codon destroyed	unknown
R7121:Faiml	UTSW	9	99,116,446 (GRCm39)	missense	probably benign	0.01
R7135:Faiml	UTSW	9	99,116,496 (GRCm39)	missense	probably benign	0.00
R7297:Faiml	UTSW	9	99,111,666 (GRCm39)	missense	probably damaging	0.98
R9353:Faiml	UTSW	9	99,116,462 (GRCm39)	missense	probably damaging	1.00
R9410:Faiml	UTSW	9	99,111,587 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- TCCCCTTGGTTAACTTTTAAAGTCG -3'
(R):5'- CTACAAGGCAGGGGCAGC -3'

Sequencing Primer
(F):5'- TTGCAACCCCAATGTTGAGG -3'
(R):5'- GTTTTAATCCCAGCACTCAGGAGG -3'

Posted On

2015-02-05