Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Fam24b'

721009

Institutional Source

Beutler Lab

Gene Symbol

Fam24b

Ensembl Gene

ENSMUSG00000030858

Gene Name

family with sequence similarity 24 member B

Synonyms

1700007K09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130927673-130931245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130927877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

Ref Sequence

ENSEMBL: ENSMUSP00000139545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033146] [ENSMUST00000046611] [ENSMUST00000124096] [ENSMUST00000188899]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033146
AA Change: D104G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000033146
Gene: ENSMUSG00000030858
AA Change: D104G

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:FAM24	78	119	1.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046611

SMART Domains

Protein: ENSMUSP00000037168
Gene: ENSMUSG00000040205

Domain	Start	End	E-Value	Type
CUB	32	146	1.78e-16	SMART
CUB	154	265	1.1e-44	SMART
ZP	276	519	1.39e-63	SMART
transmembrane domain	571	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188899
AA Change: D104G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000139545
Gene: ENSMUSG00000030858
AA Change: D104G

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:FAM24	33	82	1.5e-18	PFAM
Pfam:FAM24	78	119	2.8e-23	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tas2r130	A	G	6: 131,607,175 (GRCm39)	S207P	probably damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	probably benign	Het

Other mutations in Fam24b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Fam24b	APN	7	130,927,903 (GRCm39)	nonsense	probably null
IGL03098:Fam24b	UTSW	7	130,927,977 (GRCm39)	missense	probably benign	0.13
R0605:Fam24b	UTSW	7	130,928,915 (GRCm39)	splice site	probably benign
R1594:Fam24b	UTSW	7	130,928,025 (GRCm39)	missense	probably benign	0.01
R8023:Fam24b	UTSW	7	130,927,869 (GRCm39)	missense	probably benign	0.06
R9223:Fam24b	UTSW	7	130,927,869 (GRCm39)	missense	probably benign	0.01
R9299:Fam24b	UTSW	7	130,927,949 (GRCm39)	missense	probably benign
R9337:Fam24b	UTSW	7	130,927,949 (GRCm39)	missense	probably benign
R9437:Fam24b	UTSW	7	130,927,893 (GRCm39)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- GAGGCAGAGATTGTTTTCACTATTG -3'
(R):5'- TTTTCTTAAGAATCGCAAAGGAGGC -3'

Sequencing Primer
(F):5'- CACTATAGAAATTGGCTTGAGTA -3'
(R):5'- GGCAGATGATGAATGCTATATTGATC -3'

Posted On

2022-08-09