Mutagenetix > Incidental Mutation

Incidental Mutation 'R1692:Map7d1'

191850

Institutional Source

Beutler Lab

Gene Symbol

Map7d1

Ensembl Gene

ENSMUSG00000028849

Gene Name

MAP7 domain containing 1

Synonyms

Parcc1, Mtap7d1, Rprc1

MMRRC Submission

039725-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R1692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126125960-126150112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126136101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 36 (P36S)

Ref Sequence

ENSEMBL: ENSMUSP00000101738 (fasta)

Gene Model

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

AlphaFold

A2AJI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000061143
AA Change: P36S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054338
Gene: ENSMUSG00000028849
AA Change: P36S

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 damaging
Transcript: ENSMUST00000106132
AA Change: P36S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101738
Gene: ENSMUSG00000028849
AA Change: P36S

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

possibly damaging
Transcript: ENSMUST00000122129
AA Change: P36S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113250
Gene: ENSMUSG00000028849
AA Change: P36S

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 benign
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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	A	T	7: 133,489,673 (GRCm39)	*582R	probably null	Het
Agfg2	A	G	5: 137,662,633 (GRCm39)	Y145H	probably damaging	Het
Aldh1a1	C	T	19: 20,608,182 (GRCm39)	P335S	probably damaging	Het
Amotl1	T	C	9: 14,463,018 (GRCm39)	R732G	possibly damaging	Het
Ankef1	A	T	2: 136,392,346 (GRCm39)	I512F	probably benign	Het
Atg9a	A	T	1: 75,166,999 (GRCm39)	D17E	probably benign	Het
Atpsckmt	T	C	15: 31,602,297 (GRCm39)		probably null	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Ccnq	T	C	11: 78,642,157 (GRCm39)	E111G	probably benign	Het
Cd79a	T	A	7: 24,600,881 (GRCm39)	M192K	probably damaging	Het
Clcn1	T	G	6: 42,290,032 (GRCm39)	F822L	possibly damaging	Het
Dnajb12	A	G	10: 59,732,199 (GRCm39)	Y346C	probably damaging	Het
Erbb3	A	G	10: 128,407,594 (GRCm39)	I918T	probably benign	Het
Fbxw20	G	T	9: 109,050,777 (GRCm39)	T377K	possibly damaging	Het
Fry	A	G	5: 150,293,692 (GRCm39)	I462V	probably damaging	Het
Gmip	A	G	8: 70,266,553 (GRCm39)	N251S	probably benign	Het
Gpx1	A	G	9: 108,216,674 (GRCm39)	T55A	possibly damaging	Het
Hmcn2	T	C	2: 31,340,856 (GRCm39)	V4443A	possibly damaging	Het
Kdm4d	A	T	9: 14,375,807 (GRCm39)	I17K	probably benign	Het
Lamc3	A	G	2: 31,811,793 (GRCm39)	S927G	probably null	Het
Mfsd13a	C	A	19: 46,360,515 (GRCm39)	H356N	probably benign	Het
Mtap	C	T	4: 89,095,151 (GRCm39)	R268C	probably benign	Het
Myo1a	C	T	10: 127,555,203 (GRCm39)		probably null	Het
Myom3	T	C	4: 135,502,862 (GRCm39)	L313P	probably benign	Het
Nrxn2	T	A	19: 6,569,298 (GRCm39)	V1391E	probably damaging	Het
Otoa	A	C	7: 120,690,774 (GRCm39)	Q3P	probably damaging	Het
Phldb1	T	C	9: 44,626,717 (GRCm39)	E576G	probably damaging	Het
Pigw	A	C	11: 84,767,892 (GRCm39)	L479R	probably damaging	Het
Pip5k1a	A	G	3: 94,971,041 (GRCm39)	I507T	probably benign	Het
Ppp4r3b	T	A	11: 29,138,123 (GRCm39)	I157N	probably benign	Het
Rrm2b	G	A	15: 37,927,566 (GRCm39)	R115*	probably null	Het
Sall1	C	T	8: 89,755,028 (GRCm39)	S1317N	probably benign	Het
Serpinb6b	T	G	13: 33,158,978 (GRCm39)	F179V	probably damaging	Het
Slc4a8	T	A	15: 100,698,454 (GRCm39)	F648I	probably damaging	Het
Slc5a7	T	C	17: 54,588,754 (GRCm39)	T298A	probably damaging	Het
Slit3	T	C	11: 35,550,171 (GRCm39)	L830P	probably damaging	Het
Smarcc1	T	A	9: 110,003,072 (GRCm39)	N387K	possibly damaging	Het
Tanc2	C	T	11: 105,748,326 (GRCm39)	T486I	probably benign	Het
Tdp1	C	T	12: 99,921,260 (GRCm39)	P599S	probably damaging	Het
Tmem33	A	G	5: 67,425,897 (GRCm39)	D38G	probably null	Het
Uvrag	C	T	7: 98,653,870 (GRCm39)	R247Q	probably benign	Het
Vars1	T	C	17: 35,232,701 (GRCm39)	V875A	probably damaging	Het
Vcl	A	G	14: 21,074,250 (GRCm39)	E879G	probably damaging	Het
Vmn1r231	C	T	17: 21,110,871 (GRCm39)	V15I	probably benign	Het
Zfp609	T	C	9: 65,702,593 (GRCm39)	T20A	probably damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp959	T	A	17: 56,205,299 (GRCm39)	H445Q	probably damaging	Het
Zmiz2	T	A	11: 6,350,795 (GRCm39)	V515E	probably damaging	Het
Zmym5	G	A	14: 57,041,650 (GRCm39)	T151M	probably damaging	Het
Zxdc	C	T	6: 90,355,933 (GRCm39)	Q481*	probably null	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
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'- GATGACAGAGGTCACACACCTTGC -3'
(R):5'- AATGAATGAATCCACTGGACAGGGC -3'

Sequencing Primer
(F):5'- ACACCTTGCTTGGCAGGAG -3'
(R):5'- CAGATTGCTGTGTGAACTGAC -3'

Posted On

2014-05-14