Mutagenetix > Incidental Mutation

Incidental Mutation 'R0898:Fam241b'

83756

Institutional Source

Beutler Lab

Gene Symbol

Fam241b

Ensembl Gene

ENSMUSG00000020083

Gene Name

family with sequence similarity 241, member B

Synonyms

2010107G23Rik

MMRRC Submission

039058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61943435-61946829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61944773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 98 (F98L)

Ref Sequence

ENSEMBL: ENSMUSP00000119343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027719] [ENSMUST00000064050] [ENSMUST00000124615] [ENSMUST00000125704] [ENSMUST00000141144] [ENSMUST00000141724] [ENSMUST00000142796] [ENSMUST00000142821] [ENSMUST00000156798] [ENSMUST00000150057]

AlphaFold

Q9D882

Predicted Effect

probably benign
Transcript: ENSMUST00000027719
AA Change: F55L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027719
Gene: ENSMUSG00000020083
AA Change: F55L

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
Pfam:DUF4605	41	100	9.6e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064050
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063504
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	120	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000124615
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118912
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	120	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000125704
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115865
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	120	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141144
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119982
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	99	9.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141724
AA Change: F98L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119343
Gene: ENSMUSG00000020083
AA Change: F98L

Domain	Start	End	E-Value	Type
low complexity region	40	54	N/A	INTRINSIC
low complexity region	59	83	N/A	INTRINSIC
Pfam:DUF4605	84	123	6.6e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142796
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116424
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	120	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000142821
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119289
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	120	2e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156798
AA Change: F75L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115712
Gene: ENSMUSG00000020083
AA Change: F75L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	36	60	N/A	INTRINSIC
Pfam:DUF4605	61	100	3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150057

Meta Mutation Damage Score

0.0770

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	T	A	1: 134,351,814 (GRCm39)		probably null	Het
Apmap	A	G	2: 150,427,669 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,667,221 (GRCm39)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,075,254 (GRCm39)	A394V	probably benign	Het
Brpf3	A	G	17: 29,025,964 (GRCm39)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,383,055 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,373,153 (GRCm39)		probably benign	Het
Cpm	A	C	10: 117,512,011 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,344,679 (GRCm39)	Y117H	probably damaging	Het
Fmn2	G	A	1: 174,331,026 (GRCm39)	G472E	unknown	Het
Gcdh	T	C	8: 85,620,189 (GRCm39)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,866,290 (GRCm39)		noncoding transcript	Het
Gmeb1	T	C	4: 131,962,093 (GRCm39)	T189A	probably benign	Het
Iqck	G	A	7: 118,570,664 (GRCm39)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,904,490 (GRCm39)		probably benign	Het
Nabp1	T	C	1: 51,510,496 (GRCm39)	I169V	probably benign	Het
Or14j8	T	C	17: 38,263,127 (GRCm39)	T263A	probably benign	Het
Or8c20	G	A	9: 38,260,738 (GRCm39)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,026,111 (GRCm39)	I569V	probably benign	Het
Plcb1	A	T	2: 135,229,063 (GRCm39)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,366,806 (GRCm39)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,479,332 (GRCm39)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,248,864 (GRCm39)	T498A	probably benign	Het
Prkar2b	A	T	12: 32,013,001 (GRCm39)	L372I	possibly damaging	Het
Rslcan18	T	C	13: 67,246,880 (GRCm39)	N120S	probably benign	Het
Sbf2	C	T	7: 109,970,859 (GRCm39)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,069,370 (GRCm39)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,254,349 (GRCm39)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,744,075 (GRCm39)	T462A	probably damaging	Het
Sox11	T	C	12: 27,391,224 (GRCm39)	Y395C	probably damaging	Het
Taf2	T	C	15: 54,923,480 (GRCm39)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,621,132 (GRCm39)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,889,719 (GRCm39)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,282,207 (GRCm39)	P115S	probably damaging	Het
Trmt10a	C	T	3: 137,855,279 (GRCm39)	P139L	probably damaging	Het
Zfp113	T	C	5: 138,143,051 (GRCm39)	S400G	probably benign	Het

Other mutations in Fam241b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03226:Fam241b	APN	10	61,945,671 (GRCm39)	missense	probably benign	0.00
R1535:Fam241b	UTSW	10	61,944,728 (GRCm39)	missense	probably damaging	1.00
R2169:Fam241b	UTSW	10	61,945,745 (GRCm39)	missense	probably damaging	0.99
R3118:Fam241b	UTSW	10	61,944,635 (GRCm39)	makesense	probably null
R7311:Fam241b	UTSW	10	61,944,733 (GRCm39)	missense	probably damaging	0.97
R7625:Fam241b	UTSW	10	61,970,479 (GRCm39)	unclassified	probably benign
R7875:Fam241b	UTSW	10	61,970,271 (GRCm39)	missense
R9135:Fam241b	UTSW	10	61,944,892 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCATGATGTCGCACCAAAGCC -3'
(R):5'- TGCCTCAATTCCAAGGAAACTTCCC -3'

Sequencing Primer
(F):5'- AGTCCAGTCAATCCTACTGAAC -3'
(R):5'- GGAAACTTCCCCTGGACTC -3'

Posted On

2013-11-08