Mutagenetix > Incidental Mutation

Incidental Mutation 'R6614:Rex2'

523832

Institutional Source

Beutler Lab

Gene Symbol

Rex2

Ensembl Gene

ENSMUSG00000067919

Gene Name

reduced expression 2

Synonyms

Gm13138

MMRRC Submission

044737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R6614 (G1)

Quality Score

128.008

Status

Not validated

Chromosome

Chromosomal Location

147106307-147145251 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 147137018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 16 (M16L)

Ref Sequence

ENSEMBL: ENSMUSP00000075179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075775]

AlphaFold

A2AWF2

Predicted Effect

probably benign
Transcript: ENSMUST00000075775
AA Change: M16L

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075179
Gene: ENSMUSG00000067919
AA Change: M16L

Domain	Start	End	E-Value	Type
KRAB	28	90	1.46e-16	SMART
low complexity region	235	246	N/A	INTRINSIC
ZnF_C2H2	251	273	7.9e-4	SMART
ZnF_C2H2	279	301	7.9e-4	SMART
ZnF_C2H2	307	329	3.49e-5	SMART
ZnF_C2H2	335	357	1.95e-3	SMART
ZnF_C2H2	363	385	7.9e-4	SMART
ZnF_C2H2	391	413	7.9e-4	SMART
ZnF_C2H2	419	441	3.49e-5	SMART
ZnF_C2H2	447	469	3.89e-3	SMART
ZnF_C2H2	475	497	2.75e-3	SMART
ZnF_C2H2	503	525	3.04e-5	SMART
ZnF_C2H2	531	553	8.34e-3	SMART
ZnF_C2H2	559	581	1.58e-3	SMART
ZnF_C2H2	587	609	1.22e-4	SMART
ZnF_C2H2	615	637	1.28e-3	SMART
ZnF_C2H2	643	665	3.11e-2	SMART
low complexity region	669	685	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181752

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	T	A	8: 125,587,986 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,244,371 (GRCm39)	N2078I	probably benign	Het
Abcc2	A	G	19: 43,807,800 (GRCm39)	I814V	probably benign	Het
Adamts4	A	G	1: 171,084,193 (GRCm39)	R557G	probably benign	Het
Bltp3a	T	A	17: 28,095,899 (GRCm39)	I70N	probably benign	Het
Bysl	A	T	17: 47,912,767 (GRCm39)	L341Q	probably damaging	Het
Csmd1	C	T	8: 17,266,803 (GRCm39)	G41D	probably damaging	Het
Dnah11	T	C	12: 117,850,411 (GRCm39)	D4221G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Dnajc21	A	G	15: 10,470,349 (GRCm39)		probably null	Het
Elavl1	C	A	8: 4,339,818 (GRCm39)	A255S	probably damaging	Het
Filip1	C	T	9: 79,723,121 (GRCm39)	G1166D	probably damaging	Het
Gnptg	T	C	17: 25,454,235 (GRCm39)	Y184C	probably damaging	Het
Ifit3b	A	T	19: 34,588,919 (GRCm39)	S32C	probably benign	Het
Kcnh7	T	G	2: 62,607,940 (GRCm39)	Y547S	probably damaging	Het
Lima1	G	A	15: 99,681,461 (GRCm39)	A243V	probably damaging	Het
Mast3	T	A	8: 71,234,610 (GRCm39)	I67F	possibly damaging	Het
Ncor1	A	C	11: 62,221,645 (GRCm39)	M1283R	probably benign	Het
Ndufv1	G	A	19: 4,058,749 (GRCm39)	T253I	probably benign	Het
Neurog1	G	T	13: 56,399,637 (GRCm39)	Q37K	probably benign	Het
Nol4	T	G	18: 23,053,913 (GRCm39)	K200Q	probably damaging	Het
Obscn	T	C	11: 58,903,627 (GRCm39)	H7599R	probably benign	Het
Oog4	A	G	4: 143,164,445 (GRCm39)	V362A	possibly damaging	Het
Oosp1	T	A	19: 11,668,314 (GRCm39)	D23V	probably damaging	Het
Or11a4	T	C	17: 37,536,790 (GRCm39)	V258A	probably benign	Het
Or11g24	C	T	14: 50,662,546 (GRCm39)	T190I	probably benign	Het
Or4k1	T	A	14: 50,377,821 (GRCm39)	I92F	probably damaging	Het
Or4n4b	T	A	14: 50,536,494 (GRCm39)	I91L	probably benign	Het
Or7a41	C	A	10: 78,870,925 (GRCm39)	C98*	probably null	Het
P2rx3	A	G	2: 84,865,543 (GRCm39)	I34T	probably damaging	Het
Pate7	A	G	9: 35,688,421 (GRCm39)	W55R	probably damaging	Het
Pla2g4a	A	T	1: 149,717,986 (GRCm39)	V621E	probably benign	Het
Prpf39	T	G	12: 65,089,337 (GRCm39)	V25G	probably benign	Het
Psd	T	C	19: 46,301,851 (GRCm39)	K913E	probably benign	Het
Ptx4	A	T	17: 25,341,676 (GRCm39)	R50S	possibly damaging	Het
Serac1	A	T	17: 6,095,937 (GRCm39)	V604E	probably damaging	Het
Sp140l2	A	C	1: 85,179,781 (GRCm39)		probably null	Het
Spata31h1	T	A	10: 82,127,482 (GRCm39)	N1843Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stxbp6	T	A	12: 44,908,058 (GRCm39)	T187S	probably benign	Het
Tg	G	A	15: 66,607,108 (GRCm39)	C215Y	probably damaging	Het
Top2b	A	T	14: 16,407,142 (GRCm38)	K671*	probably null	Het
Trmt1	G	T	8: 85,415,962 (GRCm39)	V7L	probably benign	Het
Ttn	C	T	2: 76,615,174 (GRCm39)	R15102H	probably benign	Het
Unc79	A	T	12: 102,957,689 (GRCm39)	I35F	probably damaging	Het

Other mutations in Rex2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4080:Rex2	UTSW	4	147,143,154 (GRCm39)	missense	probably benign
R5075:Rex2	UTSW	4	147,142,151 (GRCm39)	missense	possibly damaging	0.72
R5294:Rex2	UTSW	4	147,142,442 (GRCm39)	missense	probably benign	0.07
R6217:Rex2	UTSW	4	147,141,931 (GRCm39)	missense	possibly damaging	0.77
R6298:Rex2	UTSW	4	147,141,972 (GRCm39)	nonsense	probably null
R6302:Rex2	UTSW	4	147,142,451 (GRCm39)	missense	possibly damaging	0.95
R7572:Rex2	UTSW	4	147,142,329 (GRCm39)	missense	probably damaging	0.98
R7827:Rex2	UTSW	4	147,142,547 (GRCm39)	missense	possibly damaging	0.95
R9134:Rex2	UTSW	4	147,142,643 (GRCm39)	missense	probably benign
R9792:Rex2	UTSW	4	147,142,039 (GRCm39)	missense	probably damaging	0.99
R9793:Rex2	UTSW	4	147,142,039 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATGTCGGTAGAAATATTGGCAAG -3'
(R):5'- CTTTGACACCTACAGTTCTATGGG -3'

Sequencing Primer
(F):5'- GCAAGAGCCCTGGTATTACTTTGC -3'
(R):5'- GACACCTACAGTTCTATGGGAATTAC -3'

Posted On

2018-06-22