Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:Ifi203'

503012

Institutional Source

Beutler Lab

Gene Symbol

Ifi203

Ensembl Gene

ENSMUSG00000039997

Gene Name

interferon activated gene 203

Synonyms

MMRRC Submission

044338-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173920407-173942672 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173924082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 391 (M391K)

Ref Sequence

ENSEMBL: ENSMUSP00000114221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042228] [ENSMUST00000081216] [ENSMUST00000111210] [ENSMUST00000123708] [ENSMUST00000129829] [ENSMUST00000156895]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000042228
AA Change: M391K

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

SMART Domains

Protein: ENSMUSP00000042071
Gene: ENSMUSG00000039997
AA Change: M391K

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
Pfam:HIN	251	418	1.5e-77	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081216
AA Change: M343K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079976
Gene: ENSMUSG00000039997
AA Change: M343K

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	174	183	N/A	INTRINSIC
Pfam:HIN	203	370	1.3e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111210

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	479	3.4e-76	PFAM
low complexity region	497	507	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123708
AA Change: M343K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121480
Gene: ENSMUSG00000039997
AA Change: M343K

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	174	183	N/A	INTRINSIC
Pfam:HIN	203	370	1.3e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128430

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129829
AA Change: M805K

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000122424
Gene: ENSMUSG00000039997
AA Change: M805K

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
low complexity region	607	623	N/A	INTRINSIC
Pfam:HIN	665	831	7.2e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135331

Predicted Effect

probably damaging
Transcript: ENSMUST00000156895
AA Change: M391K

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

SMART Domains

Protein: ENSMUSP00000114221
Gene: ENSMUSG00000039997
AA Change: M391K

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.01e-21	SMART
low complexity region	133	150	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
Pfam:HIN	251	418	1.5e-77	PFAM

Coding Region Coverage

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

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,416,850		probably null	Het
1700061G19Rik	A	G	17: 56,882,679	S265G	probably damaging	Het
2610318N02Rik	A	G	16: 17,118,369	S164P	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adam19	A	C	11: 46,121,502	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,777,193	T84S	possibly damaging	Het
Asl	C	T	5: 130,018,916	V70I	probably benign	Het
Atp2c1	A	G	9: 105,521,072	S26P	probably benign	Het
Bcas3	A	T	11: 85,509,435	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,314,285		probably null	Het
Cfh	A	G	1: 140,105,440	S789P	probably damaging	Het
Cltc	T	C	11: 86,720,362	N561S	probably benign	Het
Cnst	A	G	1: 179,592,865	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,313,877	T422A	probably benign	Het
Cyp2c55	A	T	19: 39,007,121	R26*	probably null	Het
Dgkb	A	T	12: 38,173,823	M414L	probably benign	Het
Dgkd	A	G	1: 87,924,208	D444G	probably damaging	Het
Dnmt3c	T	C	2: 153,720,009	V544A	noncoding transcript	Het
Dus3l	A	T	17: 56,767,858	T327S	possibly damaging	Het
Elf2	A	T	3: 51,277,249	L5Q	probably damaging	Het
Fam69b	A	G	2: 26,635,698	K215E	probably damaging	Het
Fxyd6	A	G	9: 45,390,670	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,292,590	T1375S	probably benign	Het
Git2	A	T	5: 114,745,495	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm9573	T	A	17: 35,620,916		probably benign	Het
Golgb1	T	C	16: 36,893,395	L246P	probably damaging	Het
Grp	G	T	18: 65,879,986	Q74H	possibly damaging	Het
Itih2	A	G	2: 10,098,541	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,438,997	V1626E	probably benign	Het
Klhl40	A	G	9: 121,778,767	Y331C	probably damaging	Het
Kprp	T	A	3: 92,824,687	Y352F	probably damaging	Het
Lama2	G	T	10: 27,188,022	H1286Q	probably damaging	Het
Lgi4	T	A	7: 31,069,122		probably null	Het
Lrrc47	A	T	4: 154,015,672	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,548,786	I308F	probably damaging	Het
Map7d1	T	A	4: 126,241,843	K135M	probably damaging	Het
March5	A	G	19: 37,210,741	R36G	probably damaging	Het
Mtx3	C	A	13: 92,852,851	P299Q	probably benign	Het
Ncapd2	C	A	6: 125,179,323	E500*	probably null	Het
Nckap5l	T	C	15: 99,425,988	K878R	probably damaging	Het
Nphs1	T	C	7: 30,467,915	I756T	probably damaging	Het
Olfm4	T	G	14: 80,000,373	S17A	probably benign	Het
Olfr1270	A	T	2: 90,149,438	D189E	probably damaging	Het
Olfr344	A	G	2: 36,568,951	M118V	probably damaging	Het
Pak1ip1	G	T	13: 41,001,410	Q27H	probably benign	Het
Piezo2	A	T	18: 63,157,210	C159*	probably null	Het
Pkn2	G	T	3: 142,810,404	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,247,611	M198K	probably benign	Het
Rrm1	T	G	7: 102,446,729		probably null	Het
Setd3	T	C	12: 108,165,168	K7E	possibly damaging	Het
Shc1	A	G	3: 89,422,107	K86R	probably benign	Het
Slc16a7	T	C	10: 125,228,215	T418A	probably benign	Het
Spocd1	C	T	4: 129,955,415	P676S	probably damaging	Het
Spp1	A	G	5: 104,439,508		probably null	Het
Syne1	A	G	10: 5,302,269	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,414,121	S42P	probably benign	Het
Tmem63b	C	T	17: 45,661,516	V722I	probably benign	Het
Ubqln1	A	G	13: 58,196,590	S130P	probably benign	Het
Usp34	G	T	11: 23,484,127	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,409,510	Y517C	probably damaging	Het
Vps13d	A	T	4: 145,148,990	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,657,153	S405P	probably damaging	Het
Zfp9	T	C	6: 118,477,321	M1V	probably null	Het
Zfp946	A	T	17: 22,454,915	S217C	probably damaging	Het
Zfp970	T	A	2: 177,475,460	C276S	probably damaging	Het
Zswim5	T	A	4: 116,878,007	F183Y	probably benign	Het

Other mutations in Ifi203

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Ifi203	APN	1	173937740	critical splice donor site	probably null
IGL02598:Ifi203	APN	1	173935002	splice site	probably benign
IGL03172:Ifi203	APN	1	173936592	missense	possibly damaging	0.94
IGL03334:Ifi203	APN	1	173937835	nonsense	probably null
FR4304:Ifi203	UTSW	1	173928328	intron	probably benign
R0593:Ifi203	UTSW	1	173928649	intron	probably benign
R0827:Ifi203	UTSW	1	173928463	intron	probably benign
R1163:Ifi203	UTSW	1	173924137	missense	probably damaging	0.98
R1769:Ifi203	UTSW	1	173928760	nonsense	probably null
R3415:Ifi203	UTSW	1	173928760	nonsense	probably null
R3737:Ifi203	UTSW	1	173929474	intron	probably benign
R3738:Ifi203	UTSW	1	173929474	intron	probably benign
R3739:Ifi203	UTSW	1	173929474	intron	probably benign
R3791:Ifi203	UTSW	1	173935080	missense	possibly damaging	0.83
R3847:Ifi203	UTSW	1	173933796	missense	possibly damaging	0.84
R4035:Ifi203	UTSW	1	173929474	intron	probably benign
R4156:Ifi203	UTSW	1	173936540	missense	probably damaging	0.98
R4164:Ifi203	UTSW	1	173928463	intron	probably benign
R4171:Ifi203	UTSW	1	173933775	splice site	probably benign
R4200:Ifi203	UTSW	1	173924115	missense	probably damaging	0.99
R4233:Ifi203	UTSW	1	173936533	missense	possibly damaging	0.92
R4845:Ifi203	UTSW	1	173927029	missense	probably benign	0.00
R4880:Ifi203	UTSW	1	173929150	intron	probably benign
R5071:Ifi203	UTSW	1	173935110	missense	possibly damaging	0.92
R5108:Ifi203	UTSW	1	173924014	missense	probably damaging	1.00
R5284:Ifi203	UTSW	1	173928708	intron	probably benign
R5335:Ifi203	UTSW	1	173926919	missense	possibly damaging	0.71
R6236:Ifi203	UTSW	1	173933913	missense	probably benign	0.33
R6397:Ifi203	UTSW	1	173927204	missense	probably benign	0.33
R6929:Ifi203	UTSW	1	173928774	intron	probably benign
R7025:Ifi203	UTSW	1	173928385	intron	probably benign
R7149:Ifi203	UTSW	1	173928928	missense	unknown
R7320:Ifi203	UTSW	1	173929167	missense	unknown
R7631:Ifi203	UTSW	1	173927122	missense	unknown
R7913:Ifi203	UTSW	1	173926957	missense	probably damaging	1.00
R8183:Ifi203	UTSW	1	173928700	missense	unknown
R8297:Ifi203	UTSW	1	173937930	missense	probably damaging	1.00
R8537:Ifi203	UTSW	1	173928906	intron	probably benign
R8919:Ifi203	UTSW	1	173928928	missense	unknown
R8936:Ifi203	UTSW	1	173929291	intron	probably benign
R9081:Ifi203	UTSW	1	173929482	missense	unknown
R9223:Ifi203	UTSW	1	173937871	missense	probably benign	0.42
R9255:Ifi203	UTSW	1	173929221	missense	unknown
R9351:Ifi203	UTSW	1	173922567	missense	probably benign	0.33
R9397:Ifi203	UTSW	1	173937981	missense	probably damaging	0.99
R9506:Ifi203	UTSW	1	173923999	missense	possibly damaging	0.93
R9586:Ifi203	UTSW	1	173927057	nonsense	probably null
R9598:Ifi203	UTSW	1	173923956	missense	probably damaging	1.00
Z1088:Ifi203	UTSW	1	173928581	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGTCCATGATCCTTACAACAG -3'
(R):5'- ACCATAGTTGCCTTGTGGGG -3'

Sequencing Primer
(F):5'- CTGCTTTCGTAAATGGGAAAGTTTTC -3'
(R):5'- ATAGTTGCCTTGTGGGGGACAG -3'

Posted On

2018-02-27