Mutagenetix > Incidental Mutation

Incidental Mutation 'R6658:Gimap4'

526709

Institutional Source

Beutler Lab

Gene Symbol

Gimap4

Ensembl Gene

ENSMUSG00000054435

Gene Name

GTPase, IMAP family member 4

Synonyms

Ian1, E430007K16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6658 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48661483-48668994 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48668338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 215 (S215P)

Ref Sequence

ENSEMBL: ENSMUSP00000068398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067506] [ENSMUST00000090070] [ENSMUST00000118802] [ENSMUST00000119575] [ENSMUST00000121957] [ENSMUST00000156770]

AlphaFold

Q99JY3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067506
AA Change: S215P

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000068398
Gene: ENSMUSG00000054435
AA Change: S215P

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	218	4.2e-72	PFAM
Pfam:MMR_HSR1	32	186	2.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090070

SMART Domains

Protein: ENSMUSP00000087524
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	242	1.5e-80	PFAM
Pfam:MMR_HSR1	32	170	1.6e-10	PFAM
low complexity region	265	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118802

SMART Domains

Protein: ENSMUSP00000112530
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	53	1.6e-7	PFAM
Pfam:AIG1	48	114	6.4e-17	PFAM
low complexity region	137	154	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119575

SMART Domains

Protein: ENSMUSP00000113989
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
SCOP:d1zin_1	31	50	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121957

SMART Domains

Protein: ENSMUSP00000113016
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	55	4.3e-8	PFAM
Pfam:AIG1	48	89	1.5e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156770

SMART Domains

Protein: ENSMUSP00000122070
Gene: ENSMUSG00000054435

Domain	Start	End	E-Value	Type
Pfam:AIG1	31	69	6.7e-17	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. This gene exists within a cluster of other related genes located on mouse chromosome 6. This family member encodes a lymphoid signaling protein that functions to accelerate programmed T-cell death, which appears to correlate with the phosphorylation status of the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele show no detectable alterations in T-cell development, selection and activation; however, mutant T cells exhibit a delay in the execution of programmed cell death induced by intrinsic stimuli downstream of caspase-3 activation and phosphatidylserine exposure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,077,353 (GRCm39)	N1340S	probably damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Antxr1	C	A	6: 87,261,291 (GRCm39)	R167L	probably damaging	Het
BC107364	T	C	3: 96,348,026 (GRCm39)	S88G	unknown	Het
Cfap100	T	G	6: 90,390,400 (GRCm39)	E80A	probably damaging	Het
Dhx8	C	A	11: 101,655,748 (GRCm39)	H1107Q	probably damaging	Het
Dip2c	G	A	13: 9,543,213 (GRCm39)		probably null	Het
Dpep2	A	T	8: 106,716,542 (GRCm39)	D212E	probably benign	Het
Dpep3	T	C	8: 106,705,728 (GRCm39)	T66A	probably benign	Het
Fat4	G	T	3: 38,997,077 (GRCm39)	M1765I	probably benign	Het
Gbgt1	G	A	2: 28,394,998 (GRCm39)	R212H	probably benign	Het
Gpr161	A	T	1: 165,134,136 (GRCm39)	T133S	possibly damaging	Het
Grin2c	G	T	11: 115,149,108 (GRCm39)	S163R	possibly damaging	Het
Grip2	T	A	6: 91,763,472 (GRCm39)	N109Y	probably damaging	Het
H60c	G	A	10: 3,210,270 (GRCm39)	T93I	possibly damaging	Het
Hmgcl	A	G	4: 135,682,962 (GRCm39)	N138S	probably damaging	Het
Hoxa3	G	T	6: 52,147,058 (GRCm39)	Y398*	probably null	Het
Igkv1-132	A	G	6: 67,737,091 (GRCm39)	N19S	probably benign	Het
Ikbip	A	G	10: 90,932,181 (GRCm39)	N275S	probably benign	Het
Il7	T	A	3: 7,642,239 (GRCm39)	T33S	probably benign	Het
Iqgap2	A	T	13: 95,796,840 (GRCm39)	Y1105N	probably damaging	Het
Lmo7	A	G	14: 102,148,281 (GRCm39)	D934G	possibly damaging	Het
Mroh4	T	C	15: 74,492,978 (GRCm39)	Q310R	possibly damaging	Het
Mtmr14	C	A	6: 113,242,437 (GRCm39)	Y22*	probably null	Het
Muc5b	G	T	7: 141,422,244 (GRCm39)		probably null	Het
Naga	T	G	15: 82,214,975 (GRCm39)	K328Q	probably benign	Het
Neo1	G	A	9: 58,829,132 (GRCm39)	T589I	probably benign	Het
Nme5	A	C	18: 34,711,639 (GRCm39)	I34S	probably damaging	Het
Nrip2	T	C	6: 128,385,199 (GRCm39)	L210P	possibly damaging	Het
Nup93	A	G	8: 95,030,807 (GRCm39)	D424G	probably benign	Het
Or12e9	T	C	2: 87,202,497 (GRCm39)	V207A	probably benign	Het
Or1e26	G	A	11: 73,479,874 (GRCm39)	S230F	probably damaging	Het
Papss1	T	A	3: 131,311,696 (GRCm39)	V308E	probably benign	Het
Pilrb1	T	A	5: 137,855,789 (GRCm39)	Y34F	probably benign	Het
Pira2	T	A	7: 3,845,300 (GRCm39)	E319D	probably benign	Het
Pkhd1	G	A	1: 20,682,929 (GRCm39)	T91M	probably damaging	Het
Prph2	A	G	17: 47,230,790 (GRCm39)	T228A	probably benign	Het
Ranbp17	G	T	11: 33,169,214 (GRCm39)	S1000*	probably null	Het
Rbm27	A	C	18: 42,457,178 (GRCm39)	H651P	probably damaging	Het
Scyl2	A	T	10: 89,476,835 (GRCm39)	D763E	probably benign	Het
Sltm	A	G	9: 70,488,644 (GRCm39)	Y598C	probably damaging	Het
Smc2	A	T	4: 52,451,322 (GRCm39)	K322I	probably benign	Het
Tcf4	G	A	18: 69,790,873 (GRCm39)	R271Q	probably null	Het
Tex36	C	T	7: 133,196,140 (GRCm39)	D87N	probably damaging	Het
Tex44	A	C	1: 86,354,751 (GRCm39)	H220P	probably benign	Het
Tjp1	T	C	7: 64,950,825 (GRCm39)	D1683G	possibly damaging	Het
Trav7-2	T	C	14: 53,628,573 (GRCm39)	S104P	probably damaging	Het
Trim55	C	T	3: 19,745,719 (GRCm39)	R532C	probably damaging	Het
Ube3c	T	A	5: 29,807,215 (GRCm39)	L338Q	probably damaging	Het
Ush2a	A	G	1: 188,546,556 (GRCm39)	H3444R	possibly damaging	Het
Vars1	A	G	17: 35,234,717 (GRCm39)	D1182G	probably benign	Het
Vit	T	A	17: 78,930,232 (GRCm39)	I399N	possibly damaging	Het
Vmn1r16	A	T	6: 57,300,091 (GRCm39)	L177*	probably null	Het

Other mutations in Gimap4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Gimap4	APN	6	48,667,872 (GRCm39)	missense	probably damaging	1.00
IGL01917:Gimap4	APN	6	48,667,854 (GRCm39)	missense	probably benign	0.02
IGL02302:Gimap4	APN	6	48,667,347 (GRCm39)	missense	probably damaging	1.00
IGL02679:Gimap4	APN	6	48,667,429 (GRCm39)	nonsense	probably null
R1466:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R1466:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R1584:Gimap4	UTSW	6	48,668,216 (GRCm39)	missense	probably benign	0.17
R2079:Gimap4	UTSW	6	48,667,881 (GRCm39)	missense	possibly damaging	0.46
R2118:Gimap4	UTSW	6	48,667,905 (GRCm39)	missense	probably benign	0.24
R2566:Gimap4	UTSW	6	48,667,799 (GRCm39)	missense	probably damaging	1.00
R4279:Gimap4	UTSW	6	48,667,511 (GRCm39)	missense	probably benign	0.22
R5592:Gimap4	UTSW	6	48,668,092 (GRCm39)	missense	probably damaging	0.99
R5597:Gimap4	UTSW	6	48,667,698 (GRCm39)	missense	probably damaging	1.00
R6162:Gimap4	UTSW	6	48,667,655 (GRCm39)	missense	probably damaging	0.97
R6354:Gimap4	UTSW	6	48,663,814 (GRCm39)	missense	possibly damaging	0.53
R8028:Gimap4	UTSW	6	48,667,684 (GRCm39)	missense	probably damaging	0.98
R8349:Gimap4	UTSW	6	48,667,694 (GRCm39)	missense	probably damaging	1.00
R8449:Gimap4	UTSW	6	48,667,694 (GRCm39)	missense	probably damaging	1.00
R8993:Gimap4	UTSW	6	48,667,539 (GRCm39)	missense	probably damaging	1.00
R9112:Gimap4	UTSW	6	48,667,629 (GRCm39)	missense	probably benign	0.00
R9366:Gimap4	UTSW	6	48,668,037 (GRCm39)	missense	probably benign
R9367:Gimap4	UTSW	6	48,667,746 (GRCm39)	missense	probably damaging	1.00
R9477:Gimap4	UTSW	6	48,667,314 (GRCm39)	missense	probably benign	0.01
X0050:Gimap4	UTSW	6	48,667,734 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AGGAGAGGGAGGCTATCTTTAC -3'
(R):5'- TCATGTGTGGAAGCTGCAGG -3'

Sequencing Primer
(F):5'- TCAACAAAATGCTAGGAAGGAAGTTG -3'
(R):5'- CCAGTGGAGAAATGGGTTCATCTTAC -3'

Posted On

2018-07-23