Mutagenetix > Incidental Mutation

Incidental Mutation 'R5382:Ms4a14'

424817

Institutional Source

Beutler Lab

Gene Symbol

Ms4a14

Ensembl Gene

ENSMUSG00000099398

Gene Name

membrane-spanning 4-domains, subfamily A, member 14

Synonyms

LOC383435

MMRRC Submission

042957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5382 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11301249-11314454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 11303057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 712 (D712E)

Ref Sequence

ENSEMBL: ENSMUSP00000140996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000187467]

AlphaFold

A0A087WSD2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181137

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187467
AA Change: D712E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: D712E

Domain	Start	End	E-Value	Type
Pfam:CD20	44	182	2.9e-27	PFAM
internal_repeat_2	356	466	2.78e-10	PROSPERO
internal_repeat_1	390	506	1.75e-17	PROSPERO
low complexity region	522	540	N/A	INTRINSIC
low complexity region	625	640	N/A	INTRINSIC
low complexity region	642	660	N/A	INTRINSIC
internal_repeat_1	665	786	1.75e-17	PROSPERO
internal_repeat_2	700	811	2.78e-10	PROSPERO
low complexity region	911	936	N/A	INTRINSIC
low complexity region	975	992	N/A	INTRINSIC
low complexity region	1079	1092	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	G	T	6: 149,326,460	E335*	probably null	Het
Acp7	G	A	7: 28,615,419	P250S	possibly damaging	Het
Actn2	T	A	13: 12,308,951	M133L	probably benign	Het
AI314180	A	T	4: 58,850,934	M413K	probably benign	Het
Arhgap32	A	T	9: 32,152,010	K105M	probably damaging	Het
BC034090	A	G	1: 155,225,603	V305A	probably benign	Het
Brd1	G	A	15: 88,729,564	T376M	probably damaging	Het
Cbl	C	T	9: 44,159,021	A505T	probably benign	Het
Cga	G	T	4: 34,904,048	M14I	probably benign	Het
Cluh	T	C	11: 74,665,109		probably benign	Het
Col14a1	A	T	15: 55,362,436	D165V	unknown	Het
Cp	T	C	3: 19,978,925	W639R	probably damaging	Het
Cyp7b1	T	A	3: 18,097,221	D276V	possibly damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Erc1	T	A	6: 119,761,272	M509L	probably benign	Het
Evi5l	A	G	8: 4,178,653		probably benign	Het
Exoc6	T	C	19: 37,598,679		probably null	Het
Gm38706	C	T	6: 130,483,781		noncoding transcript	Het
Gpr183	T	C	14: 121,954,921	T63A	possibly damaging	Het
Gpr63	T	A	4: 25,007,952	D225E	probably benign	Het
Grb14	T	A	2: 64,914,734	K93N	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kif28	C	T	1: 179,700,282	G768D	probably damaging	Het
Krt79	A	T	15: 101,931,440	D373E	probably benign	Het
Mro	G	A	18: 73,876,822	S187N	probably benign	Het
Narfl	A	G	17: 25,776,920		probably benign	Het
Ndufaf1	T	C	2: 119,660,412	T56A	possibly damaging	Het
Nell2	A	T	15: 95,229,210	D761E	probably damaging	Het
Numb	A	G	12: 83,808,205	F116L	probably damaging	Het
Olfr1016	T	C	2: 85,800,148	N41D	probably damaging	Het
Olfr1065	A	G	2: 86,445,316	L222P	probably damaging	Het
Olfr1219	A	G	2: 89,074,735	Y119H	probably damaging	Het
Olfr235	A	T	19: 12,268,409	M60L	possibly damaging	Het
Olfr410	T	A	11: 74,334,980	M84L	probably benign	Het
Olfr798	T	A	10: 129,626,007	D18V	probably damaging	Het
Otog	A	C	7: 46,249,004	N182T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Padi6	A	T	4: 140,731,210	V457E	probably damaging	Het
Pex16	G	A	2: 92,377,530	R109H	possibly damaging	Het
Phactr1	T	C	13: 43,135,219		probably benign	Het
Phf20	G	A	2: 156,267,497	E255K	probably damaging	Het
Pim1	A	G	17: 29,491,483		probably benign	Het
Prr23a2	T	A	9: 98,857,176	Y196N	probably damaging	Het
Prune2	A	T	19: 17,003,659	N60I	probably damaging	Het
Ptprb	T	A	10: 116,353,871	Y1812N	probably damaging	Het
Rab11fip4	A	G	11: 79,690,715	Y512C	possibly damaging	Het
Rft1	T	C	14: 30,666,782	V221A	probably benign	Het
Tacr2	T	C	10: 62,261,497	M252T	probably damaging	Het
Tgfbrap1	A	G	1: 43,075,865	I25T	probably benign	Het
Th	A	G	7: 142,895,440	F191S	probably damaging	Het
Trim3	C	A	7: 105,618,347	R275L	probably benign	Het
Trpm3	A	G	19: 22,885,341		probably null	Het
Wars	A	T	12: 108,882,780	D80E	probably benign	Het
Wdr90	T	A	17: 25,845,598	Y1806F	probably damaging	Het
Zfp644	A	T	5: 106,634,869	I1182N	possibly damaging	Het

Other mutations in Ms4a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Ms4a14	APN	19	11301619	missense	possibly damaging	0.73
IGL03131:Ms4a14	APN	19	11307692	missense	probably benign	0.01
IGL03136:Ms4a14	APN	19	11304411	missense	possibly damaging	0.85
IGL03173:Ms4a14	APN	19	11304196	missense	possibly damaging	0.86
IGL03210:Ms4a14	APN	19	11301961	missense	possibly damaging	0.96
R0054:Ms4a14	UTSW	19	11303939	missense	probably benign	0.00
R2895:Ms4a14	UTSW	19	11304231	missense	possibly damaging	0.73
R4455:Ms4a14	UTSW	19	11303626	missense	possibly damaging	0.53
R4574:Ms4a14	UTSW	19	11303971	missense	probably benign
R4804:Ms4a14	UTSW	19	11304040	missense	possibly damaging	0.73
R4815:Ms4a14	UTSW	19	11314277	missense	probably benign	0.00
R4854:Ms4a14	UTSW	19	11310369	missense	possibly damaging	0.51
R4858:Ms4a14	UTSW	19	11301612	missense	probably benign	0.33
R5002:Ms4a14	UTSW	19	11304289	missense	probably benign
R5580:Ms4a14	UTSW	19	11303226	missense	probably benign	0.33
R5626:Ms4a14	UTSW	19	11304055	missense	probably benign
R5767:Ms4a14	UTSW	19	11302027	missense	probably benign	0.18
R5801:Ms4a14	UTSW	19	11301786	missense	possibly damaging	0.86
R5801:Ms4a14	UTSW	19	11301882	missense	possibly damaging	0.73
R5865:Ms4a14	UTSW	19	11304217	missense	possibly damaging	0.73
R5919:Ms4a14	UTSW	19	11314297	missense	possibly damaging	0.86
R6261:Ms4a14	UTSW	19	11304020	missense	probably benign	0.33
R6585:Ms4a14	UTSW	19	11303645	missense	unknown
R6974:Ms4a14	UTSW	19	11302135	missense	probably benign
R7401:Ms4a14	UTSW	19	11302230	missense	possibly damaging	0.72
R7445:Ms4a14	UTSW	19	11302972	missense	probably benign	0.00
R7489:Ms4a14	UTSW	19	11302031	missense	probably benign	0.07
R7524:Ms4a14	UTSW	19	11303836	missense	unknown
R7532:Ms4a14	UTSW	19	11303959	missense	possibly damaging	0.86
R7689:Ms4a14	UTSW	19	11302542	missense	probably benign	0.33
R7732:Ms4a14	UTSW	19	11301683	missense	probably benign
R7737:Ms4a14	UTSW	19	11302786	nonsense	probably null
R7860:Ms4a14	UTSW	19	11302944	missense	probably benign
R8098:Ms4a14	UTSW	19	11304615	missense	possibly damaging	0.53
R8924:Ms4a14	UTSW	19	11303749	missense	possibly damaging	0.86
R9014:Ms4a14	UTSW	19	11301507	missense	possibly damaging	0.72
R9133:Ms4a14	UTSW	19	11303674	missense
R9240:Ms4a14	UTSW	19	11304500	missense	possibly damaging	0.73
R9679:Ms4a14	UTSW	19	11302684	missense	possibly damaging	0.73
R9725:Ms4a14	UTSW	19	11303365	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGATGCCATTTCTTGAGATACTG -3'
(R):5'- CCTCAAGGGACTCCATCTGAAG -3'

Sequencing Primer
(F):5'- AGATACTGAATTTTGGGTTTGTGAAC -3'
(R):5'- TCTGAAGGGACTCCATCTCAAG -3'

Posted On

2016-08-04