Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:Igtp'

441503

Institutional Source

Beutler Lab

Gene Symbol

Igtp

Ensembl Gene

ENSMUSG00000078853

Gene Name

interferon gamma induced GTPase

Synonyms

Irgm3

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58199556-58207591 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58206629 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 209 (T209A)

Ref Sequence

ENSEMBL: ENSMUSP00000047356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035266] [ENSMUST00000058704] [ENSMUST00000094169] [ENSMUST00000168280]

AlphaFold

Q9DCE9

Predicted Effect

probably benign
Transcript: ENSMUST00000035266
AA Change: T209A

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000047356
Gene: ENSMUSG00000078853
AA Change: T209A

Domain	Start	End	E-Value	Type
Pfam:IIGP	50	412	4.6e-161	PFAM
Pfam:MMR_HSR1	86	200	1.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058704

SMART Domains

Protein: ENSMUSP00000056001
Gene: ENSMUSG00000069874

Domain	Start	End	E-Value	Type
Pfam:IIGP	30	387	8.1e-165	PFAM
Pfam:MMR_HSR1	66	179	9.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094169

Predicted Effect

probably benign
Transcript: ENSMUST00000168280

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. They do have a severely compromised response to Toxoplasma gondii infections however [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,424,490 (GRCm38)	T135A	probably benign	Het
Abcc4	T	C	14: 118,618,927 (GRCm38)	I334V	probably benign	Het
Adamts5	C	T	16: 85,899,268 (GRCm38)	A334T	probably damaging	Het
Adcy4	G	C	14: 55,773,443 (GRCm38)	F672L	probably benign	Het
Adgrl1	A	G	8: 83,929,815 (GRCm38)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,130,850 (GRCm38)	S115P	probably damaging	Het
Aox1	A	T	1: 58,095,197 (GRCm38)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 65,024,238 (GRCm38)	N401K	probably damaging	Het
Atp23	A	T	10: 126,899,625 (GRCm38)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,531,382 (GRCm38)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,555,586 (GRCm38)		probably null	Het
Celsr2	T	C	3: 108,396,735 (GRCm38)	D2364G	probably null	Het
Celsr3	G	A	9: 108,838,472 (GRCm38)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,657,082 (GRCm38)	S1518P	probably damaging	Het
Clcn3	C	A	8: 60,919,353 (GRCm38)	V758L	possibly damaging	Het
Ctsf	T	C	19: 4,858,477 (GRCm38)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,418,141 (GRCm38)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,349,325 (GRCm38)		probably null	Het
Ddr1	C	T	17: 35,686,508 (GRCm38)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,801,126 (GRCm38)	I260T	probably benign	Het
Dgkh	T	C	14: 78,627,761 (GRCm38)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,665,988 (GRCm38)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm38)	M66K	probably benign	Het
Fam186a	T	G	15: 99,945,372 (GRCm38)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,674,338 (GRCm38)	L334H	probably damaging	Het
Fat4	C	T	3: 39,002,968 (GRCm38)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,768,405 (GRCm38)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 130,261,863 (GRCm38)	V18M	probably damaging	Het
Gpa33	A	C	1: 166,165,145 (GRCm38)		probably null	Het
Gpr1	A	G	1: 63,183,467 (GRCm38)	V203A	probably benign	Het
Gpr107	A	G	2: 31,185,589 (GRCm38)	I371V	probably benign	Het
Hectd2	T	C	19: 36,604,320 (GRCm38)	V420A	probably damaging	Het
Hist1h1t	A	G	13: 23,696,236 (GRCm38)	K124R	probably benign	Het
Iglc3	A	G	16: 19,065,670 (GRCm38)		probably benign	Het
Itgb7	T	A	15: 102,216,203 (GRCm38)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,338,166 (GRCm38)	R870C	probably damaging	Het
Kcnh6	C	T	11: 106,008,985 (GRCm38)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,575,830 (GRCm38)	E542D	possibly damaging	Het
Klhl24	C	A	16: 20,120,247 (GRCm38)	Y517*	probably null	Het
Klhl25	A	G	7: 75,866,147 (GRCm38)	D267G	probably benign	Het
Krr1	C	A	10: 111,977,383 (GRCm38)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,959,031 (GRCm38)	G95D	probably damaging	Het
Med15	A	T	16: 17,655,191 (GRCm38)	I504N	probably damaging	Het
Mug1	A	G	6: 121,840,181 (GRCm38)	R70G	probably benign	Het
Mypn	T	A	10: 63,135,801 (GRCm38)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,182,989 (GRCm38)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,059,780 (GRCm38)	V213M	probably benign	Het
Olfr177	A	G	16: 58,872,484 (GRCm38)	L222P	probably damaging	Het
Olfr828	A	G	9: 18,815,626 (GRCm38)	S223P	probably damaging	Het
Olfr891	T	C	9: 38,180,815 (GRCm38)	T3A	probably benign	Het
Olfr987	T	A	2: 85,331,373 (GRCm38)	N175I	probably damaging	Het
Orc2	A	G	1: 58,466,072 (GRCm38)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,366,832 (GRCm38)	L183*	probably null	Het
Pcdh20	T	C	14: 88,467,324 (GRCm38)	T847A	probably damaging	Het
Pcdha6	G	A	18: 36,968,836 (GRCm38)		probably null	Het
Pip5k1a	T	C	3: 95,067,439 (GRCm38)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,909,889 (GRCm38)	E573G	probably benign	Het
Pkp1	T	A	1: 135,882,597 (GRCm38)		probably null	Het
Pum1	T	C	4: 130,764,127 (GRCm38)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,758,437 (GRCm38)	S328P	probably benign	Het
Raver1	A	G	9: 21,090,312 (GRCm38)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,409 (GRCm38)	E511G	probably damaging	Het
Satb1	T	A	17: 51,742,795 (GRCm38)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,589,215 (GRCm38)	V248A	probably benign	Het
Sema7a	A	G	9: 57,960,659 (GRCm38)	D506G	probably damaging	Het
Sept8	A	G	11: 53,537,217 (GRCm38)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,422,812 (GRCm38)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,773,328 (GRCm38)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,358,705 (GRCm38)		probably null	Het
Tbc1d31	T	A	15: 57,951,666 (GRCm38)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 138,280,046 (GRCm38)	R305C	probably damaging	Het
Tek	T	A	4: 94,855,324 (GRCm38)	Y859N	probably damaging	Het
Tjp1	A	T	7: 65,312,443 (GRCm38)		probably null	Het
Tmem132d	A	T	5: 127,784,795 (GRCm38)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,016,650 (GRCm38)	V1580I	probably benign	Het
Troap	A	G	15: 99,082,264 (GRCm38)	T442A	probably benign	Het
Ttn	A	T	2: 76,881,753 (GRCm38)		probably benign	Het
Twnk	T	A	19: 45,007,293 (GRCm38)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,216,153 (GRCm38)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,540,519 (GRCm38)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,429,564 (GRCm38)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,418,572 (GRCm38)	V746A	probably damaging	Het
Yae1d1	A	G	13: 17,991,706 (GRCm38)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,437,841 (GRCm38)	R476*	probably null	Het
Zmynd8	T	A	2: 165,807,698 (GRCm38)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,713,427 (GRCm38)	H414L	possibly damaging	Het

Other mutations in Igtp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Igtp	APN	11	58,206,144 (GRCm38)	missense	possibly damaging	0.66
IGL03326:Igtp	APN	11	58,206,228 (GRCm38)	missense	probably benign	0.01
R0281:Igtp	UTSW	11	58,206,054 (GRCm38)	missense	probably damaging	0.97
R2762:Igtp	UTSW	11	58,206,065 (GRCm38)	missense	possibly damaging	0.91
R3426:Igtp	UTSW	11	58,206,593 (GRCm38)	missense	probably damaging	0.99
R3427:Igtp	UTSW	11	58,206,593 (GRCm38)	missense	probably damaging	0.99
R3428:Igtp	UTSW	11	58,206,593 (GRCm38)	missense	probably damaging	0.99
R4484:Igtp	UTSW	11	58,206,998 (GRCm38)	missense	possibly damaging	0.91
R4588:Igtp	UTSW	11	58,206,682 (GRCm38)	missense	probably damaging	1.00
R5299:Igtp	UTSW	11	58,207,133 (GRCm38)	missense	possibly damaging	0.79
R5662:Igtp	UTSW	11	58,206,279 (GRCm38)	missense	probably damaging	1.00
R5893:Igtp	UTSW	11	58,206,648 (GRCm38)	missense	probably damaging	1.00
R7657:Igtp	UTSW	11	58,206,828 (GRCm38)	missense	probably benign	0.02
R7738:Igtp	UTSW	11	58,207,080 (GRCm38)	missense	probably benign	0.00
R7989:Igtp	UTSW	11	58,206,379 (GRCm38)	missense	probably damaging	0.99
R8920:Igtp	UTSW	11	58,206,173 (GRCm38)	missense	probably damaging	0.98
R8986:Igtp	UTSW	11	58,206,121 (GRCm38)	critical splice donor site	probably null
R9103:Igtp	UTSW	11	58,206,900 (GRCm38)	missense
R9180:Igtp	UTSW	11	58,207,265 (GRCm38)	nonsense	probably null
R9375:Igtp	UTSW	11	58,206,200 (GRCm38)	missense	probably damaging	1.00
R9502:Igtp	UTSW	11	58,206,974 (GRCm38)	missense	possibly damaging	0.91
Z1186:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1186:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1186:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1187:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1187:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1187:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1188:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1188:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1188:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1189:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1189:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1189:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1190:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1190:Igtp	UTSW	11	58,206,590 (GRCm38)	missense	possibly damaging	0.84
Z1190:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1190:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1191:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1191:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1191:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99
Z1192:Igtp	UTSW	11	58,207,118 (GRCm38)	missense	probably benign	0.00
Z1192:Igtp	UTSW	11	58,206,965 (GRCm38)	missense	possibly damaging	0.55
Z1192:Igtp	UTSW	11	58,206,343 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACTTTCCCTATGTGGAGCTG -3'
(R):5'- CTGTACCTGATGCTGAAGATGTC -3'

Sequencing Primer
(F):5'- CCTATGTGGAGCTGTGGGACC -3'
(R):5'- ACCTGATGCTGAAGATGTCTTTTTGC -3'

Posted On

2016-11-08