Mutagenetix > Incidental Mutation

Incidental Mutation 'R9645:Map6d1'

726243

Institutional Source

Beutler Lab

Gene Symbol

Map6d1

Ensembl Gene

ENSMUSG00000041205

Gene Name

MAP6 domain containing 1

Synonyms

A330066I15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20052059-20060108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20055377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 153 (H153L)

Ref Sequence

ENSEMBL: ENSMUSP00000043332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040880] [ENSMUST00000090052] [ENSMUST00000115560]

AlphaFold

Q14BB9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040880
AA Change: H153L

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043332
Gene: ENSMUSG00000041205
AA Change: H153L

Domain	Start	End	E-Value	Type
Pfam:STOP	1	191	1.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090052

SMART Domains

Protein: ENSMUSP00000087506
Gene: ENSMUSG00000041215

Domain	Start	End	E-Value	Type
Pfam:YEATS	179	262	2.6e-27	PFAM
low complexity region	299	309	N/A	INTRINSIC
low complexity region	312	333	N/A	INTRINSIC
low complexity region	409	429	N/A	INTRINSIC
low complexity region	458	467	N/A	INTRINSIC
internal_repeat_1	471	675	3.72e-6	PROSPERO
low complexity region	683	702	N/A	INTRINSIC
low complexity region	738	775	N/A	INTRINSIC
internal_repeat_1	785	978	3.72e-6	PROSPERO
low complexity region	1240	1249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115560

SMART Domains

Protein: ENSMUSP00000111222
Gene: ENSMUSG00000041215

Domain	Start	End	E-Value	Type
Pfam:YEATS	232	314	2.1e-28	PFAM
low complexity region	352	362	N/A	INTRINSIC
low complexity region	365	386	N/A	INTRINSIC
low complexity region	462	482	N/A	INTRINSIC
low complexity region	511	520	N/A	INTRINSIC
internal_repeat_1	524	728	4.68e-6	PROSPERO
low complexity region	736	755	N/A	INTRINSIC
low complexity region	791	828	N/A	INTRINSIC
internal_repeat_1	838	1031	4.68e-6	PROSPERO
low complexity region	1293	1302	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,644,793 (GRCm39)	V226A	probably benign	Het
Acan	G	T	7: 78,749,653 (GRCm39)	V1475F	probably benign	Het
Acin1	T	A	14: 54,901,913 (GRCm39)	R626S	probably benign	Het
Aff3	T	C	1: 38,249,121 (GRCm39)	K662R	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ano9	T	G	7: 140,687,388 (GRCm39)	N309T	probably benign	Het
Ap3d1	G	A	10: 80,545,062 (GRCm39)	S1092L	probably benign	Het
B4galt7	C	T	13: 55,756,556 (GRCm39)	H257Y	probably damaging	Het
BC051665	G	T	13: 60,932,545 (GRCm39)	Q47K	possibly damaging	Het
Brip1	A	G	11: 85,952,512 (GRCm39)	F1090L	probably benign	Het
Cabin1	A	G	10: 75,494,543 (GRCm39)	V1612A	probably benign	Het
Ccar1	A	T	10: 62,602,369 (GRCm39)	D434E	probably benign	Het
Ccdc15	T	C	9: 37,227,083 (GRCm39)	D297G	probably benign	Het
Celsr3	C	A	9: 108,704,691 (GRCm39)	Y391*	probably null	Het
Cfap52	A	G	11: 67,837,179 (GRCm39)	I194T	possibly damaging	Het
Ctif	T	C	18: 75,757,352 (GRCm39)	E67G	probably benign	Het
Cxcr6	T	C	9: 123,639,151 (GRCm39)	F58L	possibly damaging	Het
Cyp2c69	T	C	19: 39,869,593 (GRCm39)	E142G	probably damaging	Het
Dnah6	T	A	6: 73,115,750 (GRCm39)	R1549S	possibly damaging	Het
Duxf3	A	T	10: 58,066,803 (GRCm39)	H75Q	probably benign	Het
Ehbp1	A	T	11: 22,051,052 (GRCm39)	I500N	probably damaging	Het
F13a1	A	T	13: 37,082,154 (GRCm39)	S517T	probably benign	Het
Fbln7	C	T	2: 128,719,316 (GRCm39)	R38C	probably damaging	Het
Fn1	T	C	1: 71,667,629 (GRCm39)	N788S	probably benign	Het
Foxc1	A	T	13: 31,991,882 (GRCm39)	E231V	probably damaging	Het
Gal3st2b	T	C	1: 93,866,328 (GRCm39)	S10P	probably damaging	Het
Gm6899	G	A	11: 26,543,592 (GRCm39)	C53Y	unknown	Het
Hps3	T	C	3: 20,084,831 (GRCm39)	E119G	probably benign	Het
Impg2	A	G	16: 56,038,767 (GRCm39)	E135G	probably damaging	Het
Kalrn	G	A	16: 34,032,583 (GRCm39)	T1155M	probably benign	Het
Kcna6	G	A	6: 126,716,022 (GRCm39)	A289V	probably benign	Het
Kcnh5	T	C	12: 75,134,191 (GRCm39)	M453V	probably benign	Het
Krt222	A	G	11: 99,131,320 (GRCm39)	V75A	possibly damaging	Het
Lmtk3	A	T	7: 45,450,431 (GRCm39)	T1432S	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp3	C	G	19: 5,802,099 (GRCm39)	N758K	probably damaging	Het
Mefv	A	G	16: 3,528,782 (GRCm39)	L583P	probably damaging	Het
Mrps28	T	C	3: 8,867,389 (GRCm39)	T160A	probably damaging	Het
Mtcl2	T	C	2: 156,869,390 (GRCm39)	K1082E	probably damaging	Het
Muc6	T	C	7: 141,217,783 (GRCm39)	T2297A	possibly damaging	Het
Mx1	G	T	16: 97,253,409 (GRCm39)	D338E	probably benign	Het
Myom1	G	A	17: 71,399,204 (GRCm39)	R1120H	probably benign	Het
Nif3l1	T	C	1: 58,487,074 (GRCm39)	F87L	probably benign	Het
Or1e35	T	A	11: 73,797,713 (GRCm39)	M202L	probably benign	Het
Or4p22	T	C	2: 88,317,373 (GRCm39)	V99A	possibly damaging	Het
Pex10	T	A	4: 155,153,264 (GRCm39)	L111Q	probably damaging	Het
Phf1	T	C	17: 27,154,130 (GRCm39)		probably null	Het
Pigp	A	T	16: 94,166,278 (GRCm39)	Y143*	probably null	Het
Pou2af2	A	G	9: 51,229,579 (GRCm39)		probably null	Het
Prrc2a	A	G	17: 35,381,176 (GRCm39)		probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rab12	A	G	17: 66,826,421 (GRCm39)	S97P	probably damaging	Het
Rigi	T	C	4: 40,220,437 (GRCm39)	E482G	possibly damaging	Het
Ros1	A	G	10: 51,948,148 (GRCm39)		probably null	Het
Scp2	A	T	4: 107,948,519 (GRCm39)	Y197N	probably benign	Het
Serpinb10	T	C	1: 107,474,488 (GRCm39)	F217L	possibly damaging	Het
Shank3	T	G	15: 89,409,453 (GRCm39)	M604R	possibly damaging	Het
Slc22a29	A	G	19: 8,184,488 (GRCm39)	S238P	probably benign	Het
Smarcc1	A	G	9: 109,986,410 (GRCm39)	D237G	probably damaging	Het
Stag3	T	C	5: 138,299,701 (GRCm39)	S871P	possibly damaging	Het
Tmem132d	A	G	5: 128,346,075 (GRCm39)	F149S	probably damaging	Het
Tmem25	C	T	9: 44,706,515 (GRCm39)	E333K		Het
Togaram1	T	A	12: 65,066,082 (GRCm39)	Y1695*	probably null	Het
Tox3	G	A	8: 90,984,574 (GRCm39)	P202S	probably damaging	Het
Trim34b	T	A	7: 103,980,474 (GRCm39)	N187K	probably benign	Het
Vcan	A	G	13: 89,841,081 (GRCm39)	S1488P	probably benign	Het
Vps26a	A	C	10: 62,305,791 (GRCm39)	V124G	probably benign	Het
Vps50	T	G	6: 3,516,706 (GRCm39)	S63A	possibly damaging	Het
Wbp4	T	A	14: 79,707,553 (GRCm39)	E186V	possibly damaging	Het
Zfp52	A	G	17: 21,781,937 (GRCm39)	D595G	possibly damaging	Het
Zfr2	C	A	10: 81,084,252 (GRCm39)	S1*	probably null	Het

Other mutations in Map6d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02178:Map6d1	APN	16	20,055,448 (GRCm39)	missense	probably damaging	1.00
Slims	UTSW	16	20,059,775 (GRCm39)	nonsense	probably null
R7284:Map6d1	UTSW	16	20,059,775 (GRCm39)	nonsense	probably null
R8843:Map6d1	UTSW	16	20,055,386 (GRCm39)	missense	probably benign	0.12
R9376:Map6d1	UTSW	16	20,059,933 (GRCm39)	missense	probably benign
RF005:Map6d1	UTSW	16	20,059,750 (GRCm39)	missense	probably benign	0.02
RF024:Map6d1	UTSW	16	20,059,750 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGCTCACTAGGAGGCCAAAG -3'
(R):5'- TCCTGCTTGTGAGGAAGGATAAAG -3'

Sequencing Primer
(F):5'- GATGCCACCTAGCCAATGG -3'
(R):5'- AGCATCACTAGGAACTGAAGC -3'

Posted On

2022-09-12