Mutagenetix > Incidental Mutation

Incidental Mutation 'R2169:Fam241b'

235672

Institutional Source

Beutler Lab

Gene Symbol

Fam241b

Ensembl Gene

ENSMUSG00000020083

Gene Name

family with sequence similarity 241, member B

Synonyms

2010107G23Rik

MMRRC Submission

040172-MU

Accession Numbers

Essential gene?

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

Stock #

R2169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61943435-61946829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61945745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 4 (I4N)

Ref Sequence

ENSEMBL: ENSMUSP00000115712 (fasta)

Gene Model

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

AlphaFold

Q9D882

Predicted Effect

probably benign
Transcript: ENSMUST00000027719

SMART Domains

Protein: ENSMUSP00000027719
Gene: ENSMUSG00000020083

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063504
Gene: ENSMUSG00000020083
AA Change: I4N

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118912
Gene: ENSMUSG00000020083
AA Change: I4N

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115865
Gene: ENSMUSG00000020083
AA Change: I4N

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119982
Gene: ENSMUSG00000020083
AA Change: I4N

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

unknown
Transcript: ENSMUST00000141724
AA Change: I27N

SMART Domains

Protein: ENSMUSP00000119343
Gene: ENSMUSG00000020083
AA Change: I27N

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116424
Gene: ENSMUSG00000020083
AA Change: I4N

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

unknown
Transcript: ENSMUST00000150057
AA Change: I27N

Predicted Effect

probably damaging
Transcript: ENSMUST00000142821
AA Change: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119289
Gene: ENSMUSG00000020083
AA Change: I4N

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: I4N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115712
Gene: ENSMUSG00000020083
AA Change: I4N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,622,349 (GRCm39)	T606A	probably benign	Het
Adtrp	T	A	13: 41,920,905 (GRCm39)	S221C	possibly damaging	Het
Ap1g2	T	A	14: 55,336,797 (GRCm39)		probably null	Het
Arhgef5	A	T	6: 43,251,354 (GRCm39)	M702L	probably benign	Het
Axdnd1	A	G	1: 156,245,879 (GRCm39)	V34A	probably damaging	Het
Ccdc154	T	A	17: 25,389,897 (GRCm39)	V509E	probably damaging	Het
Cttnbp2	C	T	6: 18,426,096 (GRCm39)	D761N	probably benign	Het
Ddx18	A	T	1: 121,486,138 (GRCm39)		probably null	Het
Dipk1a	A	T	5: 108,057,325 (GRCm39)	L411*	probably null	Het
Gm5800	T	C	14: 51,951,135 (GRCm39)	K155E	possibly damaging	Het
Hemgn	T	A	4: 46,396,417 (GRCm39)	H273L	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,168 (GRCm39)	V543A	probably damaging	Het
Hspa1l	A	G	17: 35,196,299 (GRCm39)	K113E	probably benign	Het
Hspb2	A	G	9: 50,663,015 (GRCm39)	I38T	probably damaging	Het
Htt	A	T	5: 35,034,819 (GRCm39)	E2021D	probably benign	Het
Lrpprc	C	T	17: 85,077,505 (GRCm39)	R394Q	probably benign	Het
Lrrc8b	T	C	5: 105,629,753 (GRCm39)	Y700H	probably damaging	Het
Mefv	A	G	16: 3,528,752 (GRCm39)	V593A	probably benign	Het
Mrgprh	C	T	17: 13,095,856 (GRCm39)	T32M	probably benign	Het
Mrpl18	A	G	17: 13,132,655 (GRCm39)		probably null	Het
Muc1	A	G	3: 89,138,903 (GRCm39)	E504G	probably damaging	Het
Ndufa13	G	A	8: 70,347,169 (GRCm39)	A77V	probably damaging	Het
Or8g33	A	G	9: 39,337,654 (GRCm39)	F238L	possibly damaging	Het
Pgbd5	T	A	8: 125,111,363 (GRCm39)		probably null	Het
Pgm5	T	A	19: 24,812,179 (GRCm39)	I118F	probably damaging	Het
Phyhip	T	C	14: 70,704,572 (GRCm39)	F264L	possibly damaging	Het
Polr3e	C	T	7: 120,531,360 (GRCm39)	R176W	probably damaging	Het
Prkacb	C	T	3: 146,452,438 (GRCm39)		probably null	Het
Rab19	T	G	6: 39,360,975 (GRCm39)	V41G	possibly damaging	Het
Rapgef5	A	G	12: 117,679,130 (GRCm39)	Y234C	probably benign	Het
Slc26a5	T	C	5: 22,018,863 (GRCm39)	T659A	probably damaging	Het
Slc6a2	G	A	8: 93,720,729 (GRCm39)	V449I	probably benign	Het
Stab2	A	G	10: 86,723,726 (GRCm39)	S1490P	probably damaging	Het
Tln1	T	C	4: 43,548,005 (GRCm39)	T713A	probably damaging	Het
Tmc6	A	T	11: 117,659,932 (GRCm39)	L732Q	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r203	A	T	13: 22,708,905 (GRCm39)	K229*	probably null	Het
Xylt1	G	A	7: 117,266,660 (GRCm39)	G893R	probably damaging	Het
Ythdf1	A	T	2: 180,553,907 (GRCm39)	S69T	probably damaging	Het
Zfp114	C	T	7: 23,880,509 (GRCm39)	T285I	probably benign	Het
Zfp458	T	C	13: 67,405,113 (GRCm39)	E439G	probably damaging	Het
Zfp65	G	A	13: 67,858,499 (GRCm39)	T55I	probably damaging	Het
Zmym1	C	T	4: 126,947,996 (GRCm39)		probably null	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
R0898:Fam241b	UTSW	10	61,944,773 (GRCm39)	missense	probably damaging	0.99
R1535:Fam241b	UTSW	10	61,944,728 (GRCm39)	missense	probably damaging	1.00
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'- GTGCGCTTTGGACTACATAGAG -3'
(R):5'- TTGGTTAATAGGACAAGCACCTG -3'

Sequencing Primer
(F):5'- GGAGTCACATGACCCTTTCACTAGG -3'
(R):5'- TGCTAAGGGTGGGCCAC -3'

Posted On

2014-10-01