Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03226:Fam241b'

414844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam241b

Ensembl Gene

ENSMUSG00000020083

Gene Name

family with sequence similarity 241, member B

Synonyms

2010107G23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03226

Quality Score

Status

Chromosome

Chromosomal Location

61943435-61946829 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61945671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000119343 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000064050
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063504
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000124615
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118912
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000125704
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115865
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000141144
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119982
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000141724
AA Change: S52P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119343
Gene: ENSMUSG00000020083
AA Change: S52P

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 benign
Transcript: ENSMUST00000142796
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116424
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000156798
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115712
Gene: ENSMUSG00000020083
AA Change: S29P

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: ENSMUST00000142821
AA Change: S29P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119289
Gene: ENSMUSG00000020083
AA Change: S29P

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 benign
Transcript: ENSMUST00000150057

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	G	14: 70,395,058 (GRCm39)	V32A	probably damaging	Het
Als2	T	C	1: 59,225,679 (GRCm39)	T944A	probably benign	Het
Bcat2	T	A	7: 45,237,778 (GRCm39)	V348E	probably damaging	Het
Bnip2	A	G	9: 69,903,456 (GRCm39)	D36G	probably benign	Het
C2cd5	T	A	6: 143,018,292 (GRCm39)	D310V	possibly damaging	Het
Cltc	G	A	11: 86,611,113 (GRCm39)	T582M	probably damaging	Het
Cplx3	A	T	9: 57,517,290 (GRCm39)	Y365N	probably benign	Het
Dync2h1	T	C	9: 7,125,918 (GRCm39)	H1896R	probably benign	Het
Efcab5	T	C	11: 77,028,501 (GRCm39)	R413G	possibly damaging	Het
Fam131b	C	T	6: 42,295,888 (GRCm39)	M169I	possibly damaging	Het
Gpd2	G	A	2: 57,194,498 (GRCm39)		probably null	Het
Gucy1a1	T	A	3: 82,026,331 (GRCm39)	Q41L	probably benign	Het
Ifna16	T	C	4: 88,594,741 (GRCm39)	D118G	probably benign	Het
Kcnn1	T	C	8: 71,299,135 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Lyst	A	T	13: 13,884,144 (GRCm39)	H2984L	probably benign	Het
Myh7b	C	T	2: 155,462,403 (GRCm39)	Q369*	probably null	Het
Nalcn	A	C	14: 123,518,527 (GRCm39)	W1671G	probably benign	Het
Ndrg2	G	A	14: 52,144,026 (GRCm39)		probably benign	Het
Nfia	C	A	4: 97,951,286 (GRCm39)	P371Q	probably damaging	Het
Or10d5	A	C	9: 39,861,719 (GRCm39)		probably null	Het
Pcdhb22	A	G	18: 37,652,009 (GRCm39)	D159G	probably damaging	Het
Plekhm3	A	T	1: 64,960,959 (GRCm39)	D432E	possibly damaging	Het
Pramel17	T	A	4: 101,692,594 (GRCm39)	T469S	probably benign	Het
Rab2a	A	G	4: 8,606,448 (GRCm39)	N195S	probably benign	Het
Sbf1	A	G	15: 89,173,308 (GRCm39)	Y1764H	possibly damaging	Het
Scap	A	G	9: 110,213,335 (GRCm39)	T1127A	possibly damaging	Het
Shld2	T	C	14: 33,990,328 (GRCm39)	T193A	probably benign	Het
Slc45a2	A	G	15: 11,022,278 (GRCm39)	D340G	probably damaging	Het
Tbc1d23	A	T	16: 57,034,625 (GRCm39)	L58Q	probably damaging	Het
Tmcc1	T	C	6: 116,110,937 (GRCm39)	T119A	probably damaging	Het
Tnfsf10	C	A	3: 27,389,597 (GRCm39)	Y219*	probably null	Het
Traip	G	A	9: 107,848,192 (GRCm39)	R437Q	probably damaging	Het
Tyw3	T	C	3: 154,293,187 (GRCm39)	T163A	possibly damaging	Het

Other mutations in Fam241b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02