Mutagenetix > Incidental Mutation

Incidental Mutation 'R8132:Ms4a4d'

632094

Institutional Source

Beutler Lab

Gene Symbol

Ms4a4d

Ensembl Gene

ENSMUSG00000024678

Gene Name

membrane-spanning 4-domains, subfamily A, member 4D

Synonyms

MMRRC Submission

067895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R8132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11514165-11535831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11535310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 203 (P203T)

Ref Sequence

ENSEMBL: ENSMUSP00000025581 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025581]

AlphaFold

Q99N05

Predicted Effect

probably benign
Transcript: ENSMUST00000025581
AA Change: P203T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025581
Gene: ENSMUSG00000024678
AA Change: P203T

Domain	Start	End	E-Value	Type
Pfam:CD20	43	141	1.5e-18	PFAM
transmembrane domain	146	168	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Abhd16b	G	A	2: 181,135,760 (GRCm39)	A221T	probably damaging	Het
Arhgef1	C	T	7: 24,607,087 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,174 (GRCm39)	Q472*	probably null	Het
Calr3	C	T	8: 73,181,023 (GRCm39)	G298S	probably damaging	Het
Chrng	A	G	1: 87,133,718 (GRCm39)	T15A	unknown	Het
CK137956	T	A	4: 127,845,075 (GRCm39)	K223*	probably null	Het
Clca3b	A	T	3: 144,552,935 (GRCm39)	S97T	probably benign	Het
Cops7b	G	T	1: 86,514,916 (GRCm39)	G102V	probably damaging	Het
Dennd1a	T	A	2: 37,748,072 (GRCm39)	S382C	probably damaging	Het
Fdps	G	A	3: 89,006,693 (GRCm39)	Q66*	probably null	Het
Gemin4	T	C	11: 76,103,739 (GRCm39)	T341A	probably benign	Het
Grk3	A	G	5: 113,109,355 (GRCm39)	S201P	unknown	Het
Hgf	C	T	5: 16,807,329 (GRCm39)	T407I	probably damaging	Het
Hip1r	C	T	5: 124,135,290 (GRCm39)	R446C	probably damaging	Het
Hyal6	A	T	6: 24,740,827 (GRCm39)	I327L	possibly damaging	Het
Ifna15	T	C	4: 88,475,920 (GRCm39)	E188G	possibly damaging	Het
Igip	A	G	18: 36,434,266 (GRCm39)	S11G	probably benign	Het
Igkv5-39	A	G	6: 69,877,589 (GRCm39)	Y56H	probably damaging	Het
Jph1	G	A	1: 17,086,379 (GRCm39)	T381I	probably damaging	Het
Lrrc55	T	C	2: 85,022,259 (GRCm39)	I311V	probably benign	Het
Mrps35	T	A	6: 146,949,661 (GRCm39)	D58E	probably benign	Het
Naip1	T	G	13: 100,573,883 (GRCm39)	E225D	possibly damaging	Het
Ncapg2	T	A	12: 116,407,967 (GRCm39)	I989N	possibly damaging	Het
Nek3	A	T	8: 22,647,036 (GRCm39)	Y166*	probably null	Het
Nphs1	A	G	7: 30,181,478 (GRCm39)	E1169G	probably benign	Het
Nudt15	G	A	14: 73,759,099 (GRCm39)	P123L	probably benign	Het
Or10c1	T	A	17: 37,522,207 (GRCm39)	E179V	probably damaging	Het
Or10q1b	G	A	19: 13,682,584 (GRCm39)	C131Y	probably damaging	Het
Or5ac22	T	C	16: 59,134,907 (GRCm39)	I288V	possibly damaging	Het
Or6k14	T	A	1: 173,927,737 (GRCm39)	S238T	probably damaging	Het
Or8a1b	C	T	9: 37,623,369 (GRCm39)	V69M	probably benign	Het
Pcdha5	T	C	18: 37,093,694 (GRCm39)	S68P	possibly damaging	Het
Plec	G	T	15: 76,074,773 (GRCm39)	A330E	unknown	Het
Rpa3	A	C	6: 8,256,790 (GRCm39)	I63S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Snap25	A	T	2: 136,611,748 (GRCm39)	K83N	probably benign	Het
Sos1	T	G	17: 80,716,031 (GRCm39)	Q977P	probably damaging	Het
Spag16	A	G	1: 70,420,461 (GRCm39)	Y483C	probably damaging	Het
Speg	A	G	1: 75,399,639 (GRCm39)	E2362G	probably damaging	Het
Swap70	A	G	7: 109,855,084 (GRCm39)	D128G	probably damaging	Het
Syngap1	G	A	17: 27,177,154 (GRCm39)	M545I	probably damaging	Het
Tdpoz6	G	A	3: 93,599,452 (GRCm39)	Q306*	probably null	Het
Tmem147	T	C	7: 30,427,872 (GRCm39)	E110G	probably damaging	Het
Tmem156	T	A	5: 65,233,098 (GRCm39)	I155F	probably benign	Het
Trim25	C	A	11: 88,907,432 (GRCm39)	A597E	probably damaging	Het
Ttc7b	T	C	12: 100,413,131 (GRCm39)	Y229C	probably damaging	Het
Utrn	T	A	10: 12,558,154 (GRCm39)	Q1435L	probably damaging	Het
Zbtb41	T	C	1: 139,350,955 (GRCm39)	S23P	probably benign	Het
Zeb2	T	A	2: 44,879,142 (GRCm39)	I1075F	probably damaging	Het

Other mutations in Ms4a4d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00718:Ms4a4d	APN	19	11,535,335 (GRCm39)	missense	probably damaging	0.99
IGL00951:Ms4a4d	APN	19	11,532,285 (GRCm39)	missense	probably benign	0.00
IGL02627:Ms4a4d	APN	19	11,525,987 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ms4a4d	APN	19	11,533,610 (GRCm39)	missense	possibly damaging	0.65
IGL02868:Ms4a4d	APN	19	11,527,646 (GRCm39)	missense	probably damaging	1.00
R0010:Ms4a4d	UTSW	19	11,532,190 (GRCm39)	missense	probably damaging	1.00
R1134:Ms4a4d	UTSW	19	11,535,298 (GRCm39)	missense	possibly damaging	0.49
R4932:Ms4a4d	UTSW	19	11,535,296 (GRCm39)	missense	probably benign	0.05
R5169:Ms4a4d	UTSW	19	11,535,340 (GRCm39)	missense	possibly damaging	0.80
R5390:Ms4a4d	UTSW	19	11,526,004 (GRCm39)	critical splice donor site	probably null
R6581:Ms4a4d	UTSW	19	11,532,204 (GRCm39)	missense	probably damaging	0.99
R7014:Ms4a4d	UTSW	19	11,525,947 (GRCm39)	missense	probably benign	0.17
R7429:Ms4a4d	UTSW	19	11,535,297 (GRCm39)	missense	probably benign	0.38
R7430:Ms4a4d	UTSW	19	11,535,297 (GRCm39)	missense	probably benign	0.38
R8872:Ms4a4d	UTSW	19	11,530,251 (GRCm39)	missense	possibly damaging	0.63
R8927:Ms4a4d	UTSW	19	11,533,574 (GRCm39)	missense	probably benign	0.11
R8928:Ms4a4d	UTSW	19	11,533,574 (GRCm39)	missense	probably benign	0.11
R9005:Ms4a4d	UTSW	19	11,533,564 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGAGTAGCCACAGTGTAGGC -3'
(R):5'- TGGAGACTTCACCTCACTAAAC -3'

Sequencing Primer
(F):5'- GCACTAGTAAAGGTAACATTATGAGG -3'
(R):5'- CACCTCACTAAACCAAGGTTTTTATC -3'

Posted On

2020-06-30