Mutagenetix > Incidental Mutation

Incidental Mutation 'R9374:Map7d1'

709486

Institutional Source

Beutler Lab

Gene Symbol

Map7d1

Ensembl Gene

ENSMUSG00000028849

Gene Name

MAP7 domain containing 1

Synonyms

Parcc1, Mtap7d1, Rprc1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R9374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126125960-126150112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126127429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 720 (E720G)

Ref Sequence

ENSEMBL: ENSMUSP00000054338 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061143] [ENSMUST00000106132] [ENSMUST00000122129]

AlphaFold

A2AJI0

Predicted Effect

unknown
Transcript: ENSMUST00000061143
AA Change: E720G

SMART Domains

Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: E720G

Domain	Start	End	E-Value	Type
low complexity region	25	47	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	163	224	N/A	INTRINSIC
low complexity region	323	343	N/A	INTRINSIC
coiled coil region	414	444	N/A	INTRINSIC
low complexity region	460	471	N/A	INTRINSIC
low complexity region	480	497	N/A	INTRINSIC
low complexity region	533	558	N/A	INTRINSIC
Pfam:MAP7	587	735	7.1e-41	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106132
AA Change: E648G

SMART Domains

Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: E648G

Domain	Start	End	E-Value	Type
low complexity region	25	47	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	163	224	N/A	INTRINSIC
coiled coil region	342	372	N/A	INTRINSIC
low complexity region	388	399	N/A	INTRINSIC
low complexity region	408	425	N/A	INTRINSIC
low complexity region	461	486	N/A	INTRINSIC
Pfam:MAP7	510	668	1.4e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000122129
AA Change: E688G

SMART Domains

Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: E688G

Domain	Start	End	E-Value	Type
low complexity region	25	47	N/A	INTRINSIC
low complexity region	110	123	N/A	INTRINSIC
coiled coil region	163	224	N/A	INTRINSIC
coiled coil region	382	412	N/A	INTRINSIC
low complexity region	428	439	N/A	INTRINSIC
low complexity region	448	465	N/A	INTRINSIC
low complexity region	501	526	N/A	INTRINSIC
Pfam:MAP7	550	708	1.5e-61	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000125981
AA Change: E464G

SMART Domains

Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849
AA Change: E464G

Domain	Start	End	E-Value	Type
low complexity region	68	88	N/A	INTRINSIC
coiled coil region	158	188	N/A	INTRINSIC
low complexity region	205	216	N/A	INTRINSIC
low complexity region	225	242	N/A	INTRINSIC
low complexity region	278	303	N/A	INTRINSIC
Pfam:MAP7	332	480	1.5e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	A	T	2: 20,886,397 (GRCm39)	V270E	probably damaging	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Celf2	G	A	2: 6,590,886 (GRCm39)	T303I	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cpeb2	C	A	5: 43,391,584 (GRCm39)	S260*	probably null	Het
Dscam	A	T	16: 96,857,857 (GRCm39)	I51N	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Hipk3	T	C	2: 104,301,850 (GRCm39)	N114S	probably benign	Het
Hnrnph3	T	C	10: 62,853,957 (GRCm39)	M54V	probably benign	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,810,461 (GRCm39)	N371S	probably benign	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Mtor	C	T	4: 148,599,397 (GRCm39)	R1482C	probably damaging	Het
Ndst1	G	T	18: 60,845,931 (GRCm39)	T126K	probably damaging	Het
Nkain3	C	A	4: 20,778,431 (GRCm39)		probably benign	Het
Obscn	T	C	11: 58,922,787 (GRCm39)	I5850V	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or5d14	C	T	2: 87,880,509 (GRCm39)	W153*	probably null	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Pkn1	A	T	8: 84,404,367 (GRCm39)	N543K	probably benign	Het
Plin1	T	C	7: 79,372,544 (GRCm39)	N343D	probably benign	Het
Prpf4	T	C	4: 62,336,131 (GRCm39)	V286A	probably benign	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rbpms	A	G	8: 34,294,173 (GRCm39)	F190S	possibly damaging	Het
Rpl10a	T	A	17: 28,548,006 (GRCm39)	F49Y	possibly damaging	Het
Slc32a1	A	G	2: 158,455,995 (GRCm39)	T217A	probably damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Slitrk5	C	T	14: 111,916,496 (GRCm39)	T40I	probably benign	Het
Smchd1	T	C	17: 71,718,843 (GRCm39)	N842S	possibly damaging	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Stc2	A	G	11: 31,310,332 (GRCm39)	S235P	probably benign	Het
Tcaf2	C	T	6: 42,619,728 (GRCm39)	A100T	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tcf15	T	C	2: 151,986,039 (GRCm39)	L165P	probably damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tmem200c	G	T	17: 69,148,682 (GRCm39)	G422W	probably damaging	Het
Tnfsf13b	A	G	8: 10,085,391 (GRCm39)	I294V	possibly damaging	Het
Tns3	T	A	11: 8,442,606 (GRCm39)	T586S	probably damaging	Het
Unc80	A	T	1: 66,629,460 (GRCm39)	E1319V	possibly damaging	Het
Vegfc	A	G	8: 54,622,180 (GRCm39)	I221V	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Vmn2r111	T	A	17: 22,787,859 (GRCm39)	L497F	probably benign	Het
Wdr49	T	C	3: 75,230,931 (GRCm39)	D577G	probably benign	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het

Other mutations in Map7d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Map7d1	APN	4	126,132,398 (GRCm39)	missense	probably damaging	1.00
IGL02298:Map7d1	APN	4	126,127,714 (GRCm39)	missense	unknown
R0136:Map7d1	UTSW	4	126,130,424 (GRCm39)	critical splice donor site	probably null
R0362:Map7d1	UTSW	4	126,128,787 (GRCm39)	missense	probably damaging	1.00
R1138:Map7d1	UTSW	4	126,135,912 (GRCm39)	missense	possibly damaging	0.82
R1499:Map7d1	UTSW	4	126,128,558 (GRCm39)	critical splice donor site	probably null
R1692:Map7d1	UTSW	4	126,136,101 (GRCm39)	missense	probably damaging	0.99
R3805:Map7d1	UTSW	4	126,131,084 (GRCm39)	splice site	probably null
R4369:Map7d1	UTSW	4	126,128,866 (GRCm39)	missense	probably damaging	0.99
R4814:Map7d1	UTSW	4	126,128,114 (GRCm39)	critical splice donor site	probably null
R4893:Map7d1	UTSW	4	126,127,015 (GRCm39)	missense	unknown
R4898:Map7d1	UTSW	4	126,127,018 (GRCm39)	missense	unknown
R4911:Map7d1	UTSW	4	126,130,484 (GRCm39)	missense	probably damaging	1.00
R4949:Map7d1	UTSW	4	126,128,846 (GRCm39)	nonsense	probably null
R5189:Map7d1	UTSW	4	126,136,097 (GRCm39)	splice site	probably null
R6198:Map7d1	UTSW	4	126,135,636 (GRCm39)	missense	probably damaging	1.00
R6336:Map7d1	UTSW	4	126,130,475 (GRCm39)	missense	probably damaging	1.00
R6558:Map7d1	UTSW	4	126,126,702 (GRCm39)	missense	unknown
R6781:Map7d1	UTSW	4	126,134,544 (GRCm39)	frame shift	probably null
R7177:Map7d1	UTSW	4	126,130,778 (GRCm39)	missense	probably damaging	1.00
R7204:Map7d1	UTSW	4	126,149,808 (GRCm39)	critical splice donor site	probably null
R7269:Map7d1	UTSW	4	126,126,666 (GRCm39)	missense	unknown
R7486:Map7d1	UTSW	4	126,128,179 (GRCm39)	missense	unknown
R7560:Map7d1	UTSW	4	126,130,429 (GRCm39)	missense	probably damaging	1.00
R8266:Map7d1	UTSW	4	126,132,353 (GRCm39)	missense	probably damaging	1.00
R8750:Map7d1	UTSW	4	126,132,315 (GRCm39)	missense	probably benign	0.19
R8963:Map7d1	UTSW	4	126,130,475 (GRCm39)	missense	probably damaging	1.00
R9036:Map7d1	UTSW	4	126,133,911 (GRCm39)	missense	probably damaging	1.00
R9158:Map7d1	UTSW	4	126,130,478 (GRCm39)	missense	possibly damaging	0.92
R9307:Map7d1	UTSW	4	126,128,024 (GRCm39)	missense	unknown
R9710:Map7d1	UTSW	4	126,127,440 (GRCm39)	critical splice acceptor site	probably null
Z1177:Map7d1	UTSW	4	126,128,170 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTGCTTCTGGTTTGAAAAGGAAG -3'
(R):5'- TGTACCTGTGAACCAGTGGG -3'

Sequencing Primer
(F):5'- CGTTGACCTCGGAACTGAATTC -3'
(R):5'- TGAACCAGTGGGGCCCAG -3'

Posted On

2022-04-18