Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Mgarp'

714449

Institutional Source

Beutler Lab

Gene Symbol

Mgarp

Ensembl Gene

ENSMUSG00000037161

Gene Name

mitochondria localized glutamic acid rich protein

Synonyms

4930583H14Rik, Osap

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51295833-51303968 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51303902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 10 (T10A)

Ref Sequence

ENSEMBL: ENSMUSP00000040703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038154] [ENSMUST00000108046] [ENSMUST00000141156]

AlphaFold

Q8VI64

Predicted Effect

probably damaging
Transcript: ENSMUST00000038154
AA Change: T10A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040703
Gene: ENSMUSG00000037161
AA Change: T10A

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	1	185	1.9e-70	PFAM
internal_repeat_1	200	225	3.83e-5	PROSPERO
low complexity region	245	278	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108046

SMART Domains

Protein: ENSMUSP00000103681
Gene: ENSMUSG00000037161

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	10	177	7.6e-54	PFAM
low complexity region	237	270	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000123126
Gene: ENSMUSG00000037161
AA Change: T24A

Domain	Start	End	E-Value	Type
Pfam:AIF-MLS	16	210	3.8e-82	PFAM
internal_repeat_1	214	239	5.25e-5	PROSPERO
low complexity region	259	291	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ica1	A	T	6: 8,667,288 (GRCm39)	S293T	probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	Het

Other mutations in Mgarp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01611:Mgarp	APN	3	51,296,570 (GRCm39)	missense	probably damaging	0.99
IGL02145:Mgarp	APN	3	51,296,453 (GRCm39)	missense	possibly damaging	0.79
IGL02736:Mgarp	APN	3	51,303,866 (GRCm39)	missense	possibly damaging	0.89
IGL02824:Mgarp	APN	3	51,296,508 (GRCm39)	missense	probably damaging	0.98
R0117:Mgarp	UTSW	3	51,304,133 (GRCm39)	unclassified	probably benign
R0152:Mgarp	UTSW	3	51,296,384 (GRCm39)	missense	probably benign	0.01
R0492:Mgarp	UTSW	3	51,296,456 (GRCm39)	missense	possibly damaging	0.77
R4433:Mgarp	UTSW	3	51,303,681 (GRCm39)	intron	probably benign
R5048:Mgarp	UTSW	3	51,298,707 (GRCm39)	missense	probably damaging	0.99
R5290:Mgarp	UTSW	3	51,296,387 (GRCm39)	missense	possibly damaging	0.92
R5470:Mgarp	UTSW	3	51,298,706 (GRCm39)	missense	possibly damaging	0.77
R5780:Mgarp	UTSW	3	51,299,269 (GRCm39)	missense	probably damaging	1.00
R7836:Mgarp	UTSW	3	51,296,487 (GRCm39)	missense	probably benign	0.00
R7903:Mgarp	UTSW	3	51,304,119 (GRCm39)	missense
R8463:Mgarp	UTSW	3	51,296,348 (GRCm39)	missense	probably damaging	0.96
R9035:Mgarp	UTSW	3	51,296,264 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAAGAAATTCGGAGGGCTG -3'
(R):5'- TGCAGCCATTAAGCGACTGC -3'

Sequencing Primer
(F):5'- AAATTCGGAGGGCTGGCCTG -3'
(R):5'- GCACGGGACTGCAACTCTATTAG -3'

Posted On

2022-06-15