Mutagenetix > Incidental Mutation

Incidental Mutation 'R6261:Ms4a14'

506731

Institutional Source

Beutler Lab

Gene Symbol

Ms4a14

Ensembl Gene

ENSMUSG00000099398

Gene Name

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

Synonyms

LOC383435

MMRRC Submission

044404-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R6261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11278613-11291818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11281384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 391 (E391D)

Ref Sequence

ENSEMBL: ENSMUSP00000140996 (fasta)

Gene Model

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

AlphaFold

A0A087WSD2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181137

Predicted Effect

probably benign
Transcript: ENSMUST00000187467
AA Change: E391D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140996
Gene: ENSMUSG00000099398
AA Change: E391D

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	T	C	2: 164,636,979 (GRCm39)	D257G	probably damaging	Het
Adamtsl1	T	C	4: 86,255,115 (GRCm39)	V736A	probably benign	Het
Anln	A	G	9: 22,275,342 (GRCm39)	L521S	probably damaging	Het
Arfgap2	T	G	2: 91,100,627 (GRCm39)	S311A	probably benign	Het
Brdt	A	T	5: 107,496,369 (GRCm39)	E160D	probably benign	Het
Ccdc187	A	G	2: 26,166,215 (GRCm39)	I738T	probably damaging	Het
Cd59a	G	C	2: 103,934,550 (GRCm39)	G6A	probably damaging	Het
Cd5l	C	T	3: 87,275,915 (GRCm39)	P295L	probably benign	Het
Cdhr17	T	C	5: 17,017,183 (GRCm39)		noncoding transcript	Het
Cnot1	A	G	8: 96,468,549 (GRCm39)	S1432P	probably benign	Het
Cnot8	T	A	11: 58,004,877 (GRCm39)	I192N	probably damaging	Het
Col4a1	G	T	8: 11,257,409 (GRCm39)		probably null	Het
Cuta	A	G	17: 27,158,301 (GRCm39)	L11P	possibly damaging	Het
Cyp2c39	G	A	19: 39,556,463 (GRCm39)	R433H	probably damaging	Het
Cyp4a12b	T	A	4: 115,271,740 (GRCm39)	Y150*	probably null	Het
Dcaf15	G	A	8: 84,825,734 (GRCm39)	A291V	probably benign	Het
Dcstamp	A	T	15: 39,618,131 (GRCm39)	H180L	possibly damaging	Het
Egfr	A	G	11: 16,839,964 (GRCm39)	I659M	probably benign	Het
Fzd8	A	G	18: 9,214,598 (GRCm39)	E560G	possibly damaging	Het
Gm5111	A	T	6: 48,566,526 (GRCm39)		probably benign	Het
Gm7945	T	C	14: 41,104,780 (GRCm39)	T214A	unknown	Het
Gpi1	T	C	7: 33,920,170 (GRCm39)	T168A	possibly damaging	Het
Gys2	T	C	6: 142,405,134 (GRCm39)	I218V	probably benign	Het
Gzmf	T	A	14: 56,443,949 (GRCm39)	I74L	probably benign	Het
Hacl1	G	A	14: 31,357,728 (GRCm39)	A70V	probably damaging	Het
Herc2	T	A	7: 55,846,820 (GRCm39)	L3590*	probably null	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igfals	G	T	17: 25,100,339 (GRCm39)	V477F	possibly damaging	Het
Igkv8-28	A	T	6: 70,120,874 (GRCm39)	V23E	probably benign	Het
Isg20l2	T	A	3: 87,839,395 (GRCm39)	V202E	probably damaging	Het
Jakmip2	A	G	18: 43,708,599 (GRCm39)	I288T	probably benign	Het
Kansl3	A	G	1: 36,404,686 (GRCm39)	V88A	probably benign	Het
Kcna3	A	G	3: 106,945,266 (GRCm39)	T510A	possibly damaging	Het
Map2k5	G	T	9: 63,245,380 (GRCm39)	L140I	probably benign	Het
Map3k19	A	G	1: 127,750,336 (GRCm39)	I1005T	possibly damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Mtrf1l	A	G	10: 5,765,550 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,433,132 (GRCm39)	N1591S	probably damaging	Het
Nos1	G	A	5: 118,074,635 (GRCm39)	V1060M	probably benign	Het
Nsun5	C	T	5: 135,400,385 (GRCm39)	T142M	probably damaging	Het
Odc1	A	G	12: 17,600,655 (GRCm39)	E430G	probably benign	Het
Or8g36	C	A	9: 39,422,105 (GRCm39)	V304F	probably benign	Het
P2ry12	T	C	3: 59,125,328 (GRCm39)	I116V	probably null	Het
Patl1	T	A	19: 11,897,695 (GRCm39)	V94E	probably damaging	Het
Plin3	A	T	17: 56,588,488 (GRCm39)	Y255*	probably null	Het
Pou6f1	T	C	15: 100,477,827 (GRCm39)	T439A	probably damaging	Het
Prdm13	T	C	4: 21,678,366 (GRCm39)	K708R	probably damaging	Het
Prr14l	A	G	5: 32,986,748 (GRCm39)	S916P	possibly damaging	Het
Rab34	T	A	11: 78,082,028 (GRCm39)		probably null	Het
Rps7	A	G	12: 28,685,593 (GRCm39)	S21P	possibly damaging	Het
Scn9a	A	T	2: 66,314,240 (GRCm39)	L1815Q	probably damaging	Het
Sesn3	A	G	9: 14,232,459 (GRCm39)	Y244C	probably benign	Het
Slc15a2	A	G	16: 36,581,973 (GRCm39)	F284L	probably benign	Het
Slc25a44	C	T	3: 88,328,218 (GRCm39)	G72D	probably damaging	Het
Slco6d1	A	G	1: 98,427,588 (GRCm39)	T640A	probably benign	Het
Sspo	A	T	6: 48,439,125 (GRCm39)	E1591V	possibly damaging	Het
Tbata	C	A	10: 61,011,644 (GRCm39)	T60K	possibly damaging	Het
Tbc1d2	T	A	4: 46,637,692 (GRCm39)	T185S	possibly damaging	Het
Tlcd4	T	A	3: 121,028,708 (GRCm39)	I60F	possibly damaging	Het
Tmem87a	A	G	2: 120,234,502 (GRCm39)	S14P	possibly damaging	Het
Tnnt2	C	A	1: 135,778,292 (GRCm39)		probably null	Het
Trex1	A	G	9: 108,887,709 (GRCm39)	V94A	probably benign	Het
Ubtfl1	A	C	9: 18,320,592 (GRCm39)	D40A	possibly damaging	Het
Zc3hav1	A	T	6: 38,309,935 (GRCm39)	Y296N	probably benign	Het
Zfp521	T	A	18: 13,977,684 (GRCm39)	N910Y	probably damaging	Het
Zfp53	A	G	17: 21,728,975 (GRCm39)	E336G	possibly damaging	Het

Other mutations in Ms4a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Ms4a14	APN	19	11,278,983 (GRCm39)	missense	possibly damaging	0.73
IGL03131:Ms4a14	APN	19	11,285,056 (GRCm39)	missense	probably benign	0.01
IGL03136:Ms4a14	APN	19	11,281,775 (GRCm39)	missense	possibly damaging	0.85
IGL03173:Ms4a14	APN	19	11,281,560 (GRCm39)	missense	possibly damaging	0.86
IGL03210:Ms4a14	APN	19	11,279,325 (GRCm39)	missense	possibly damaging	0.96
R0054:Ms4a14	UTSW	19	11,281,303 (GRCm39)	missense	probably benign	0.00
R2895:Ms4a14	UTSW	19	11,281,595 (GRCm39)	missense	possibly damaging	0.73
R4455:Ms4a14	UTSW	19	11,280,990 (GRCm39)	missense	possibly damaging	0.53
R4574:Ms4a14	UTSW	19	11,281,335 (GRCm39)	missense	probably benign
R4804:Ms4a14	UTSW	19	11,281,404 (GRCm39)	missense	possibly damaging	0.73
R4815:Ms4a14	UTSW	19	11,291,641 (GRCm39)	missense	probably benign	0.00
R4854:Ms4a14	UTSW	19	11,287,733 (GRCm39)	missense	possibly damaging	0.51
R4858:Ms4a14	UTSW	19	11,278,976 (GRCm39)	missense	probably benign	0.33
R5002:Ms4a14	UTSW	19	11,281,653 (GRCm39)	missense	probably benign
R5382:Ms4a14	UTSW	19	11,280,421 (GRCm39)	missense	possibly damaging	0.70
R5580:Ms4a14	UTSW	19	11,280,590 (GRCm39)	missense	probably benign	0.33
R5626:Ms4a14	UTSW	19	11,281,419 (GRCm39)	missense	probably benign
R5767:Ms4a14	UTSW	19	11,279,391 (GRCm39)	missense	probably benign	0.18
R5801:Ms4a14	UTSW	19	11,279,246 (GRCm39)	missense	possibly damaging	0.73
R5801:Ms4a14	UTSW	19	11,279,150 (GRCm39)	missense	possibly damaging	0.86
R5865:Ms4a14	UTSW	19	11,281,581 (GRCm39)	missense	possibly damaging	0.73
R5919:Ms4a14	UTSW	19	11,291,661 (GRCm39)	missense	possibly damaging	0.86
R6585:Ms4a14	UTSW	19	11,281,009 (GRCm39)	missense	unknown
R6974:Ms4a14	UTSW	19	11,279,499 (GRCm39)	missense	probably benign
R7401:Ms4a14	UTSW	19	11,279,594 (GRCm39)	missense	possibly damaging	0.72
R7445:Ms4a14	UTSW	19	11,280,336 (GRCm39)	missense	probably benign	0.00
R7489:Ms4a14	UTSW	19	11,279,395 (GRCm39)	missense	probably benign	0.07
R7524:Ms4a14	UTSW	19	11,281,200 (GRCm39)	missense	unknown
R7532:Ms4a14	UTSW	19	11,281,323 (GRCm39)	missense	possibly damaging	0.86
R7689:Ms4a14	UTSW	19	11,279,906 (GRCm39)	missense	probably benign	0.33
R7732:Ms4a14	UTSW	19	11,279,047 (GRCm39)	missense	probably benign
R7737:Ms4a14	UTSW	19	11,280,150 (GRCm39)	nonsense	probably null
R7860:Ms4a14	UTSW	19	11,280,308 (GRCm39)	missense	probably benign
R8098:Ms4a14	UTSW	19	11,281,979 (GRCm39)	missense	possibly damaging	0.53
R8924:Ms4a14	UTSW	19	11,281,113 (GRCm39)	missense	possibly damaging	0.86
R9014:Ms4a14	UTSW	19	11,278,871 (GRCm39)	missense	possibly damaging	0.72
R9133:Ms4a14	UTSW	19	11,281,038 (GRCm39)	missense
R9240:Ms4a14	UTSW	19	11,281,864 (GRCm39)	missense	possibly damaging	0.73
R9679:Ms4a14	UTSW	19	11,280,048 (GRCm39)	missense	possibly damaging	0.73
R9725:Ms4a14	UTSW	19	11,280,729 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTAGATCTTGGTATGGAGTCCC -3'
(R):5'- TCACCTGAATGATGCGGACC -3'

Sequencing Primer
(F):5'- AGTCCCTTGGGATGGAGTCTC -3'
(R):5'- CTGAATGATGCGGACCTATCATC -3'

Posted On

2018-03-15