Mutagenetix > Incidental Mutation

Incidental Mutation 'R9282:Fam131a'

703709

Institutional Source

Beutler Lab

Gene Symbol

Fam131a

Ensembl Gene

ENSMUSG00000050821

Gene Name

family with sequence similarity 131, member A

Synonyms

2900046G09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R9282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20511991-20521798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 20520243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 232 (R232H)

Ref Sequence

ENSEMBL: ENSMUSP00000060194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007207] [ENSMUST00000056518] [ENSMUST00000118919] [ENSMUST00000120099] [ENSMUST00000128273] [ENSMUST00000131522] [ENSMUST00000149543] [ENSMUST00000232207] [ENSMUST00000232309]

AlphaFold

Q8BWU3

Predicted Effect

probably benign
Transcript: ENSMUST00000007207

SMART Domains

Protein: ENSMUSP00000007207
Gene: ENSMUSG00000022843

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	102	111	N/A	INTRINSIC
Pfam:Voltage_CLC	151	555	1.2e-94	PFAM
Blast:CBS	595	644	3e-12	BLAST
low complexity region	666	680	N/A	INTRINSIC
CBS	803	850	3.69e0	SMART
low complexity region	869	881	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056518
AA Change: R232H

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060194
Gene: ENSMUSG00000050821
AA Change: R232H

Domain	Start	End	E-Value	Type
low complexity region	45	60	N/A	INTRINSIC
Pfam:FAM131	80	356	6.4e-144	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118919
AA Change: R147H

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113719
Gene: ENSMUSG00000050821
AA Change: R147H

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	271	4e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120099

SMART Domains

Protein: ENSMUSP00000112759
Gene: ENSMUSG00000022843

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	102	111	N/A	INTRINSIC
Pfam:Voltage_CLC	151	538	5.6e-77	PFAM
Blast:CBS	578	627	4e-12	BLAST
low complexity region	649	663	N/A	INTRINSIC
CBS	786	833	3.69e0	SMART
low complexity region	852	864	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000128273
AA Change: R147H

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120596
Gene: ENSMUSG00000050821
AA Change: R147H

Domain	Start	End	E-Value	Type
Pfam:FAM131	1	202	4e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131522

SMART Domains

Protein: ENSMUSP00000122921
Gene: ENSMUSG00000022843

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	102	111	N/A	INTRINSIC
Pfam:Voltage_CLC	151	473	4.2e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149543

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232207
AA Change: R147H

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000232309

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	G	A	16: 56,440,867 (GRCm39)	V701M	unknown	Het
Adam2	G	A	14: 66,267,238 (GRCm39)	P674S	probably benign	Het
Adam24	T	A	8: 41,133,674 (GRCm39)	Y381N	probably damaging	Het
Adgrv1	A	G	13: 81,251,491 (GRCm39)	S6209P	probably damaging	Het
Aox4	A	T	1: 58,285,028 (GRCm39)	K593N	possibly damaging	Het
Aqp3	A	G	4: 41,093,640 (GRCm39)	V258A	possibly damaging	Het
Atg16l1	T	A	1: 87,707,906 (GRCm39)	F390I	possibly damaging	Het
B4galt6	T	A	18: 20,825,509 (GRCm39)	Y239F	possibly damaging	Het
Cmtr2	T	C	8: 110,948,977 (GRCm39)	M429T	probably benign	Het
Col5a2	C	G	1: 45,478,029 (GRCm39)		probably null	Het
Dcc	T	C	18: 71,815,249 (GRCm39)	D375G	possibly damaging	Het
Dnah14	T	C	1: 181,642,077 (GRCm39)	Y31H		Het
Fam186a	A	G	15: 99,839,879 (GRCm39)	Y2122H	probably damaging	Het
Focad	A	T	4: 88,115,059 (GRCm39)	I421F	unknown	Het
Fscb	T	G	12: 64,520,097 (GRCm39)	E456D	possibly damaging	Het
Furin	C	A	7: 80,040,846 (GRCm39)	S664I	probably benign	Het
Ganc	A	G	2: 120,290,381 (GRCm39)	E906G	probably benign	Het
Gdf5	C	G	2: 155,783,915 (GRCm39)	D346H	probably damaging	Het
Golga4	T	C	9: 118,385,893 (GRCm39)	L1005P	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,908 (GRCm39)	N183S	probably benign	Het
Itpr1	T	A	6: 108,370,984 (GRCm39)	F1084I	probably damaging	Het
Katnal1	A	T	5: 148,831,021 (GRCm39)	Y184*	probably null	Het
Lrrc37a	A	G	11: 103,391,633 (GRCm39)	I1264T	probably benign	Het
Map3k2	T	A	18: 32,342,805 (GRCm39)	M234K	probably damaging	Het
Mcm3ap	T	A	10: 76,342,352 (GRCm39)	V1615E	probably damaging	Het
Mkrn2	A	G	6: 115,591,534 (GRCm39)		probably null	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nradd	T	A	9: 110,450,751 (GRCm39)	Q142L	possibly damaging	Het
Ophn1	G	A	X: 97,622,145 (GRCm39)	T668M	probably benign	Het
Or56b35	T	C	7: 104,963,781 (GRCm39)	I190T	probably benign	Het
Pdzd7	A	G	19: 45,028,622 (GRCm39)	F174L	probably damaging	Het
Pi4k2b	C	T	5: 52,900,879 (GRCm39)	T99I	probably benign	Het
Pigv	A	T	4: 133,391,973 (GRCm39)	V399D	probably damaging	Het
Pla2g4a	C	A	1: 149,747,207 (GRCm39)	L326F	probably damaging	Het
Psmg1	T	C	16: 95,790,717 (GRCm39)	I73M	probably damaging	Het
Rcl1	T	C	19: 29,093,170 (GRCm39)	S62P	probably damaging	Het
Slc23a4	T	A	6: 34,955,861 (GRCm39)	I58F	probably damaging	Het
Slc36a2	G	T	11: 55,060,837 (GRCm39)	T191K	probably benign	Het
Sorbs2	T	G	8: 46,248,774 (GRCm39)	V675G	probably benign	Het
Tbc1d30	T	C	10: 121,142,128 (GRCm39)		probably null	Het
Tbc1d4	A	G	14: 101,845,616 (GRCm39)	V94A	possibly damaging	Het
Tdrd5	T	C	1: 156,105,030 (GRCm39)	Y532C	probably benign	Het
Tll2	T	A	19: 41,074,772 (GRCm39)	I931L	probably benign	Het
Tlr3	T	C	8: 45,851,643 (GRCm39)	N418S	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tshr	T	A	12: 91,474,518 (GRCm39)	M164K	possibly damaging	Het
Ttc21b	A	G	2: 66,056,349 (GRCm39)	V679A	possibly damaging	Het
Ttn	A	G	2: 76,730,861 (GRCm39)	Y4951H	unknown	Het
Usf1	T	A	1: 171,243,373 (GRCm39)	V50D	possibly damaging	Het
Utp6	A	T	11: 79,826,851 (GRCm39)	M575K	probably benign	Het
Vmn1r197	A	T	13: 22,512,608 (GRCm39)	R176S	possibly damaging	Het
Vmn2r104	A	T	17: 20,261,098 (GRCm39)	F442I	probably damaging	Het
Vmn2r94	A	G	17: 18,497,751 (GRCm39)	F7S	possibly damaging	Het
Vps41	G	T	13: 19,013,401 (GRCm39)	E340*	probably null	Het

Other mutations in Fam131a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0141:Fam131a	UTSW	16	20,517,738 (GRCm39)	missense	probably benign	0.30
R3607:Fam131a	UTSW	16	20,520,345 (GRCm39)	missense	probably damaging	1.00
R3806:Fam131a	UTSW	16	20,514,608 (GRCm39)	missense	probably benign	0.45
R5672:Fam131a	UTSW	16	20,518,389 (GRCm39)	missense	probably damaging	1.00
R7485:Fam131a	UTSW	16	20,520,444 (GRCm39)	missense	probably benign	0.06
R7867:Fam131a	UTSW	16	20,514,584 (GRCm39)	missense	probably benign	0.05
R9308:Fam131a	UTSW	16	20,520,582 (GRCm39)	missense	probably damaging	0.99
RF021:Fam131a	UTSW	16	20,513,690 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCCACAGCTATAAGGGTAG -3'
(R):5'- CGGTGAGTTGTAAAGGGAGTCC -3'

Sequencing Primer
(F):5'- CAGCTATAAGGGTAGGTGTGG -3'
(R):5'- TAAAGGGAGTCCTGGGCCTC -3'

Posted On

2022-03-25