Mutagenetix > Incidental Mutation

Incidental Mutation 'R9471:Fam221a'

715460

Institutional Source

Beutler Lab

Gene Symbol

Fam221a

Ensembl Gene

ENSMUSG00000047115

Gene Name

family with sequence similarity 221, member A

Synonyms

D330028D13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R9471 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49344673-49367473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 49349520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 28 (D28E)

Ref Sequence

ENSEMBL: ENSMUSP00000050237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060561] [ENSMUST00000121903] [ENSMUST00000134786]

AlphaFold

Q8C790

Predicted Effect

probably damaging
Transcript: ENSMUST00000060561
AA Change: D28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050237
Gene: ENSMUSG00000047115
AA Change: D28E

Domain	Start	End	E-Value	Type
Pfam:DUF4475	20	214	2.6e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121903
AA Change: D28E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113242
Gene: ENSMUSG00000047115
AA Change: D28E

Domain	Start	End	E-Value	Type
Pfam:DUF4475	20	216	9.7e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134786

SMART Domains

Protein: ENSMUSP00000114554
Gene: ENSMUSG00000047115

Domain	Start	End	E-Value	Type
Pfam:DUF4475	1	63	4.6e-33	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	A	G	5: 137,565,319 (GRCm39)	K368E	probably damaging	Het
Adgrl2	T	C	3: 148,558,365 (GRCm39)	T448A	probably benign	Het
Aff4	C	T	11: 53,271,473 (GRCm39)	P337S	probably benign	Het
Alg12	G	A	15: 88,690,621 (GRCm39)	Q406*	probably null	Het
Anapc5	T	C	5: 122,944,308 (GRCm39)	Y302C	probably damaging	Het
Apol7a	A	G	15: 77,273,680 (GRCm39)	S261P	possibly damaging	Het
Atad5	G	T	11: 80,023,524 (GRCm39)	K1545N	possibly damaging	Het
Atp6v1f	T	A	6: 29,467,941 (GRCm39)	D42E	probably benign	Het
Bcl6	T	A	16: 23,791,857 (GRCm39)	N166Y	probably benign	Het
Btbd7	C	T	12: 102,760,145 (GRCm39)	R601Q	probably damaging	Het
Casp1	A	G	9: 5,304,187 (GRCm39)	E287G	probably benign	Het
Cd300c	A	T	11: 114,847,216 (GRCm39)	V193E	probably damaging	Het
Cd300lg	T	A	11: 101,944,920 (GRCm39)	S377T	probably benign	Het
Ceacam13	T	A	7: 17,753,012 (GRCm39)	*264R	probably null	Het
Clasrp	G	A	7: 19,319,172 (GRCm39)	R498*	probably null	Het
Clec4n	T	A	6: 123,221,505 (GRCm39)	N146K	probably benign	Het
Cntln	T	A	4: 84,968,019 (GRCm39)	V746E	possibly damaging	Het
Defa29	T	C	8: 21,816,901 (GRCm39)	T31A	possibly damaging	Het
Egr4	A	G	6: 85,489,695 (GRCm39)	S122P	possibly damaging	Het
Fanca	G	A	8: 124,000,897 (GRCm39)	T1161I	possibly damaging	Het
Fcsk	T	C	8: 111,610,041 (GRCm39)	E991G	probably benign	Het
Frat2	A	G	19: 41,836,113 (GRCm39)	S80P	probably benign	Het
Gse1	C	A	8: 121,301,845 (GRCm39)	S985R	unknown	Het
H2-M3	T	A	17: 37,581,988 (GRCm39)	I148N	probably damaging	Het
Hs6st3	G	T	14: 119,376,235 (GRCm39)	V137L	probably damaging	Het
Ighv1-42	T	A	12: 114,900,927 (GRCm39)	M53L	probably benign	Het
Klhl24	C	T	16: 19,941,735 (GRCm39)	T561I		Het
Klhl26	C	G	8: 70,904,803 (GRCm39)	G369A	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lrrd1	A	T	5: 3,913,980 (GRCm39)	D750V		Het
Mc5r	A	G	18: 68,472,127 (GRCm39)	D162G	probably damaging	Het
Mrc2	T	A	11: 105,234,559 (GRCm39)	S1026R	probably benign	Het
Nf1	A	G	11: 79,436,195 (GRCm39)	H1945R	probably damaging	Het
Nr4a2	A	G	2: 57,002,114 (GRCm39)	M113T	probably benign	Het
Obox2	G	A	7: 15,131,113 (GRCm39)	G73D	probably damaging	Het
Or1af1	G	A	2: 37,110,400 (GRCm39)	A300T	probably damaging	Het
Or2t48	A	T	11: 58,420,355 (GRCm39)	C152*	probably null	Het
Pappa2	C	T	1: 158,642,029 (GRCm39)	M1342I	probably benign	Het
Pla2g6	A	T	15: 79,202,039 (GRCm39)	L44Q	probably damaging	Het
Pnpla1	A	T	17: 29,099,973 (GRCm39)	Q280L	probably benign	Het
Pramel23	T	A	4: 143,423,749 (GRCm39)	T347S	probably damaging	Het
Prdm1	C	T	10: 44,326,174 (GRCm39)	G117S	probably damaging	Het
Prss36	A	T	7: 127,545,605 (GRCm39)	F6I	probably benign	Het
Sat2	A	G	11: 69,513,725 (GRCm39)	Y81C	probably damaging	Het
Sbspon	T	C	1: 15,962,677 (GRCm39)	D67G	probably benign	Het
Shank2	G	A	7: 143,964,752 (GRCm39)	V787M	possibly damaging	Het
Stoml1	A	T	9: 58,163,968 (GRCm39)	I96F	probably damaging	Het
Tet2	C	T	3: 133,191,680 (GRCm39)	G918D	probably damaging	Het
Tgm4	A	G	9: 122,869,444 (GRCm39)	I8V	probably benign	Het
Tmem156	C	T	5: 65,237,531 (GRCm39)	R43K	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r67	A	C	7: 84,799,723 (GRCm39)		probably null	Het
Wdr90	C	A	17: 26,080,015 (GRCm39)	V107L	possibly damaging	Het
Zfp316	T	C	5: 143,241,161 (GRCm39)	D286G	unknown	Het
Zfp981	C	A	4: 146,622,080 (GRCm39)	P335Q	probably benign	Het
Zscan18	T	C	7: 12,508,343 (GRCm39)	T386A	possibly damaging	Het

Other mutations in Fam221a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02802:Fam221a	UTSW	6	49,355,411 (GRCm39)	missense	probably damaging	1.00
R3713:Fam221a	UTSW	6	49,349,548 (GRCm39)	missense	probably damaging	1.00
R3747:Fam221a	UTSW	6	49,349,630 (GRCm39)	missense	probably damaging	1.00
R3748:Fam221a	UTSW	6	49,349,630 (GRCm39)	missense	probably damaging	1.00
R4386:Fam221a	UTSW	6	49,355,366 (GRCm39)	missense	probably damaging	1.00
R5362:Fam221a	UTSW	6	49,353,049 (GRCm39)	missense	probably damaging	1.00
R5763:Fam221a	UTSW	6	49,355,518 (GRCm39)	missense	probably damaging	1.00
R6005:Fam221a	UTSW	6	49,344,756 (GRCm39)	unclassified	probably benign
R6684:Fam221a	UTSW	6	49,349,542 (GRCm39)	nonsense	probably null
R7069:Fam221a	UTSW	6	49,355,432 (GRCm39)	missense	probably damaging	0.99
R7732:Fam221a	UTSW	6	49,349,563 (GRCm39)	missense	probably benign	0.21
R8152:Fam221a	UTSW	6	49,355,490 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACTCCATCAGAAGCGGAC -3'
(R):5'- TGTTATTTACAGGAGGAAGACACG -3'

Sequencing Primer
(F):5'- CTCCATCAGAAGCGGACATTTTATTG -3'
(R):5'- TTACAGGAGGAAGACACGTTTTTGC -3'

Posted On

2022-06-15