Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Map7d1'

168681

Institutional Source

Beutler Lab

Gene Symbol

Map7d1

Ensembl Gene

ENSMUSG00000028849

Gene Name

MAP7 domain containing 1

Synonyms

Parcc1, Mtap7d1, Rprc1

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.803) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126125960-126150112 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 126128558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

A2AJI0

Predicted Effect

probably null
Transcript: ENSMUST00000061143

SMART Domains

Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849

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

probably null
Transcript: ENSMUST00000106132

SMART Domains

Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849

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

probably null
Transcript: ENSMUST00000122129

SMART Domains

Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849

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

probably null
Transcript: ENSMUST00000122129

SMART Domains

Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849

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

probably null
Transcript: ENSMUST00000125981

SMART Domains

Protein: ENSMUSP00000120292
Gene: ENSMUSG00000028849

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137382

Meta Mutation Damage Score

0.8650

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Col6a2	A	T	10: 76,439,544 (GRCm39)	V740E	probably damaging	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably 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
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
R9374:Map7d1	UTSW	4	126,127,429 (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'- AGTTAGTACACACCAGTACAGGCCC -3'
(R):5'- TTAGCCCTAAGTCCAAGGCCCG -3'

Sequencing Primer
(F):5'- GTACAGGCCCCTCCATCAG -3'
(R):5'- GACCAGGACATGCCCTTC -3'

Posted On

2014-04-13