Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Mtx1'

716568

Institutional Source

Beutler Lab

Gene Symbol

Mtx1

Ensembl Gene

ENSMUSG00000064068

Gene Name

metaxin 1

Synonyms

Gcap6

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R9486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89116388-89121214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89120163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 62 (C62S)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000073572] [ENSMUST00000077367] [ENSMUST00000118964] [ENSMUST00000119084] [ENSMUST00000142051] [ENSMUST00000152789] [ENSMUST00000167998] [ENSMUST00000174126] [ENSMUST00000197738]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029682

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	2.5e-22	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
EGF	417	456	1.99e0	SMART
Pfam:TSP_3	492	527	1e-12	PFAM
Pfam:TSP_3	551	586	2.2e-16	PFAM
Pfam:TSP_3	586	609	6.6e-7	PFAM
Pfam:TSP_3	610	647	2.6e-14	PFAM
Pfam:TSP_3	648	687	2.4e-10	PFAM
Pfam:TSP_3	688	723	4.2e-15	PFAM
Pfam:TSP_C	741	938	3.3e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073572

SMART Domains

Protein: ENSMUSP00000073261
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	4.2e-21	PFAM
Pfam:Tom37_C	239	317	8.1e-24	PFAM
Pfam:GST_C_3	267	383	1.7e-11	PFAM
Pfam:GST_C_2	270	377	2.7e-8	PFAM
Pfam:Tom37_C	300	369	1.1e-14	PFAM
low complexity region	396	415	N/A	INTRINSIC
transmembrane domain	416	438	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077367

SMART Domains

Protein: ENSMUSP00000076589
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118964

SMART Domains

Protein: ENSMUSP00000114009
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	94	109	N/A	INTRINSIC
Pfam:Tom37	151	219	5.9e-21	PFAM
Pfam:Tom37_C	216	287	6.3e-19	PFAM
Pfam:GST_C_3	216	352	5.1e-11	PFAM
Pfam:GST_C_2	238	344	1.9e-8	PFAM
Pfam:Tom37_C	269	338	9.5e-15	PFAM
low complexity region	365	384	N/A	INTRINSIC
transmembrane domain	385	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119084

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	8.2e-26	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
Pfam:TSP_3	455	490	4.4e-13	PFAM
Pfam:TSP_3	514	549	9.3e-17	PFAM
Pfam:TSP_3	549	572	2.8e-7	PFAM
Pfam:TSP_3	573	610	1.1e-14	PFAM
Pfam:TSP_3	611	650	1e-10	PFAM
Pfam:TSP_3	651	686	1.8e-15	PFAM
Pfam:TSP_C	704	904	7.9e-108	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000113986
Gene: ENSMUSG00000064068
AA Change: C62S

Domain	Start	End	E-Value	Type
Pfam:Tom37	12	57	1.6e-11	PFAM
Pfam:Tom37_C	138	216	5.4e-24	PFAM
Pfam:GST_C_3	166	282	1.1e-11	PFAM
Pfam:GST_C_2	169	276	1.8e-8	PFAM
Pfam:Tom37_C	199	268	7.2e-15	PFAM
low complexity region	295	314	N/A	INTRINSIC
transmembrane domain	315	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129055

Predicted Effect

probably benign
Transcript: ENSMUST00000142051

SMART Domains

Protein: ENSMUSP00000116136
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	1	124	2.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152789

Predicted Effect

probably benign
Transcript: ENSMUST00000167998

SMART Domains

Protein: ENSMUSP00000130660
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	512	1.4e-252	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173465

Predicted Effect

probably benign
Transcript: ENSMUST00000173475

SMART Domains

Protein: ENSMUSP00000134110
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
low complexity region	12	31	N/A	INTRINSIC
low complexity region	97	116	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173477

SMART Domains

Protein: ENSMUSP00000133282
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	1	58	8.5e-16	PFAM
Pfam:Tom37_C	77	155	9.7e-24	PFAM
Pfam:GST_C_3	104	221	8.2e-12	PFAM
Pfam:GST_C_2	107	216	7.5e-9	PFAM
Pfam:Tom37_C	138	207	1.3e-14	PFAM
low complexity region	234	253	N/A	INTRINSIC
transmembrane domain	254	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173593

SMART Domains

Protein: ENSMUSP00000133866
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37	14	82	1.1e-21	PFAM
Pfam:Tom37_C	102	178	3.4e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174126

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197738

SMART Domains

Protein: ENSMUSP00000142401
Gene: ENSMUSG00000028048

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Glyco_hydro_30	20	388	1e-186	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Ace3	A	T	11: 105,896,219 (GRCm39)	T722S	probably benign	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Arhgap22	T	A	14: 33,073,303 (GRCm39)	M4K	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Etnk1	G	A	6: 143,130,310 (GRCm39)	R143H	probably damaging	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mmp3	A	G	9: 7,451,256 (GRCm39)	I331V	possibly damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or1ad1	T	A	11: 50,875,691 (GRCm39)	H54Q	possibly damaging	Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Mtx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02189:Mtx1	APN	3	89,116,624 (GRCm39)	missense	probably damaging	0.99
IGL02544:Mtx1	APN	3	89,117,703 (GRCm39)	missense	probably damaging	1.00
R1677:Mtx1	UTSW	3	89,116,648 (GRCm39)	missense	probably benign	0.24
R4944:Mtx1	UTSW	3	89,121,205 (GRCm39)	missense	probably benign
R6006:Mtx1	UTSW	3	89,117,613 (GRCm39)	missense	probably damaging	1.00
R7684:Mtx1	UTSW	3	89,117,739 (GRCm39)	missense	possibly damaging	0.93
R7690:Mtx1	UTSW	3	89,120,088 (GRCm39)	missense
R7820:Mtx1	UTSW	3	89,121,315 (GRCm39)	missense	probably benign	0.09
R8376:Mtx1	UTSW	3	89,121,478 (GRCm39)	missense	probably benign	0.00
R8939:Mtx1	UTSW	3	89,120,033 (GRCm39)	missense	probably damaging	0.97
Z1177:Mtx1	UTSW	3	89,121,412 (GRCm39)	missense	probably benign	0.01
Z1177:Mtx1	UTSW	3	89,121,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACCTCTTTACGAAGATGGGTG -3'
(R):5'- GGAATGACACCCTCTTTCCG -3'

Sequencing Primer
(F):5'- CCTCTTTACGAAGATGGGTGATGATC -3'
(R):5'- ATAGAACATAATTTACTGAGTCACGG -3'

Posted On

2022-07-18