Mutagenetix > Incidental Mutation

Incidental Mutation 'R7401:Ms4a14'

574209

Institutional Source

Beutler Lab

Gene Symbol

Ms4a14

Ensembl Gene

ENSMUSG00000099398

Gene Name

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

Synonyms

LOC383435

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R7401 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11301249-11314454 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11302230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 988 (E988G)

Ref Sequence

ENSEMBL: ENSMUSP00000140996 (fasta)

Gene Model

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

AlphaFold

A0A087WSD2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187467
AA Change: E988G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: E988G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,404	L152Q	probably benign	Het
Abcg3	A	T	5: 104,966,774	N292K	probably damaging	Het
Adamts3	T	A	5: 89,707,450		probably null	Het
Adgrg7	T	C	16: 56,742,418	N519D	probably benign	Het
Adsl	A	G	15: 80,962,782	H263R	probably damaging	Het
Ak9	A	T	10: 41,423,004	D1567V	unknown	Het
Bscl2	T	C	19: 8,846,550	F280L	possibly damaging	Het
Cacna1b	T	A	2: 24,679,294	T873S	probably benign	Het
Cacna1c	T	C	6: 119,052,708		probably null	Het
Cast	G	T	13: 74,808,458	A18E	unknown	Het
Ccdc114	A	C	7: 45,942,765	Q323P	probably damaging	Het
Cd207	A	C	6: 83,677,848		probably benign	Het
Cd79b	A	G	11: 106,312,852	S130P	probably benign	Het
Cfap52	A	T	11: 67,949,633	N157K	probably benign	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Chaf1b	G	T	16: 93,884,380		probably benign	Het
Cntn1	A	G	15: 92,317,989	I968V	probably benign	Het
Cntn5	C	T	9: 9,833,461	V362I	probably benign	Het
Crem	A	G	18: 3,295,329	S80P	probably damaging	Het
Csnk1g3	C	T	18: 53,930,318	T267I	probably damaging	Het
Cyth1	A	T	11: 118,182,251	N274K	possibly damaging	Het
Dicer1	C	T	12: 104,712,278	G594S	probably benign	Het
Enpp1	C	T	10: 24,645,282	C849Y	probably damaging	Het
Fam193a	A	G	5: 34,465,635	E1189G	possibly damaging	Het
Fermt1	C	A	2: 132,917,559	V426L	probably benign	Het
Fes	A	G	7: 80,378,776		probably null	Het
Gm16486	T	C	8: 70,717,272	I1337T	probably benign	Het
Gmeb1	C	A	4: 132,225,774	L560F	probably damaging	Het
Hace1	T	C	10: 45,670,626	L452P	probably damaging	Het
Hecw2	T	A	1: 53,904,343	H975L	probably damaging	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il1r2	T	A	1: 40,123,210	C338S	probably damaging	Het
Kcnb1	T	C	2: 167,188,284	S114G	probably damaging	Het
Lce1c	A	T	3: 92,680,316	T17S	unknown	Het
Lhfpl4	C	A	6: 113,176,666	L141F	possibly damaging	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Neurod1	T	A	2: 79,454,946	D31V	probably benign	Het
Neurod4	A	G	10: 130,271,058	C116R	probably damaging	Het
Nisch	A	G	14: 31,206,580	V28A	probably benign	Het
Olfr1174-ps	T	G	2: 88,311,428	M123L	probably benign	Het
Olfr1245	A	G	2: 89,575,105	V207A	probably benign	Het
Pabpc4l	A	T	3: 46,446,252	I319N	probably damaging	Het
Pabpc4l	T	A	3: 46,446,589	R207W	probably damaging	Het
Pcm1	G	A	8: 41,309,531	D1371N	probably damaging	Het
Peg10	G	GGTC	6: 4,756,452		probably benign	Het
Plxnc1	C	T	10: 94,871,005	A557T	probably benign	Het
Prkdc	T	A	16: 15,648,738	V58D	probably damaging	Het
Prpf40a	A	G	2: 53,156,947	V259A	probably benign	Het
Psmd3	A	T	11: 98,685,640	T123S	probably benign	Het
Ptgr2	G	T	12: 84,292,329		probably benign	Het
Ptprr	A	G	10: 116,048,236	H66R	probably benign	Het
Rftn2	A	G	1: 55,194,242		probably null	Het
Rsph14	T	A	10: 75,029,796	E70V	possibly damaging	Het
Slc24a5	G	A	2: 125,088,191	V471I	probably benign	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Spag9	A	T	11: 94,097,689	T862S	probably benign	Het
Ssbp2	T	A	13: 91,690,883	D291E	probably benign	Het
Supt5	T	C	7: 28,323,772	K329E	probably damaging	Het
Syne2	G	T	12: 75,967,381	K3115N	probably damaging	Het
Tars	A	T	15: 11,392,009	L239*	probably null	Het
Tbxa2r	T	C	10: 81,332,791	Y105H	probably benign	Het
Tesk1	T	A	4: 43,445,743	D265E	probably damaging	Het
Tril	T	C	6: 53,818,281	D652G	possibly damaging	Het
Tsga10	T	C	1: 37,834,187	R204G	probably null	Het
Twnk	A	G	19: 45,011,780	D645G	probably benign	Het
Umodl1	A	T	17: 30,998,148	D1118V	probably damaging	Het
Unc119	T	C	11: 78,347,245	I83T	probably benign	Het
Unc80	T	C	1: 66,646,415	W2233R	possibly damaging	Het
Vmn1r45	T	A	6: 89,933,434	T185S	possibly damaging	Het
Vmn2r111	G	T	17: 22,571,086	T313K	possibly damaging	Het
Wdr4	A	G	17: 31,509,832	L123S	probably damaging	Het
Zfpm2	A	G	15: 41,102,990	E957G	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
R5382:Ms4a14	UTSW	19	11303057	missense	possibly damaging	0.70
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
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'- TTGGGATCTCTGGCTAATAGGC -3'
(R):5'- TGAAGATCAGCAAGCTCAAGATC -3'

Sequencing Primer
(F):5'- CTGCCAGGATGGAGTTGAC -3'
(R):5'- TCAGCAAGCTGATGACCAG -3'

Posted On

2019-09-13