Mutagenetix > Incidental Mutation

Incidental Mutation 'R7662:Fam114a2'

591655

Institutional Source

Beutler Lab

Gene Symbol

Fam114a2

Ensembl Gene

ENSMUSG00000020523

Gene Name

family with sequence similarity 114, member A2

Synonyms

9030624B09Rik, 1810073G14Rik

MMRRC Submission

045737-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57373819-57409443 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57398391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 182 (D182E)

Ref Sequence

ENSEMBL: ENSMUSP00000104478 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020831] [ENSMUST00000108850]

AlphaFold

Q8VE88

Predicted Effect

probably damaging
Transcript: ENSMUST00000020831
AA Change: D175E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523
AA Change: D175E

Domain	Start	End	E-Value	Type
Pfam:DUF719	68	236	5e-72	PFAM
low complexity region	263	275	N/A	INTRINSIC
low complexity region	338	355	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108850
AA Change: D182E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523
AA Change: D182E

Domain	Start	End	E-Value	Type
Pfam:DUF719	77	243	4.5e-71	PFAM
low complexity region	270	282	N/A	INTRINSIC
low complexity region	345	362	N/A	INTRINSIC

Meta Mutation Damage Score

0.1358

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,885,999 (GRCm39)	S48L	probably benign	Het
Abi3bp	A	G	16: 56,437,686 (GRCm39)		probably null	Het
Adss1	T	A	12: 112,606,172 (GRCm39)	V456E	probably damaging	Het
Aimp1	A	T	3: 132,379,827 (GRCm39)	V105E	probably benign	Het
Ankrd6	G	A	4: 32,818,694 (GRCm39)	R270C	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asb15	T	A	6: 24,566,089 (GRCm39)	D347E	probably benign	Het
Axin2	T	A	11: 108,833,282 (GRCm39)	L489Q	possibly damaging	Het
Baiap2l1	G	A	5: 144,294,700 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,801,438 (GRCm39)	N194K	possibly damaging	Het
Cdc6	T	C	11: 98,807,836 (GRCm39)	L443P	probably benign	Het
Celf2	C	A	2: 6,558,728 (GRCm39)	G393C	probably damaging	Het
Cep290	T	A	10: 100,373,665 (GRCm39)	M1315K	probably benign	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Cntn5	A	T	9: 9,661,390 (GRCm39)	M887K	probably benign	Het
Col17a1	T	C	19: 47,669,940 (GRCm39)	I71V	probably benign	Het
Crot	T	C	5: 9,019,072 (GRCm39)	M494V	probably damaging	Het
Ctnna2	A	T	6: 77,613,852 (GRCm39)	V246D	probably damaging	Het
Cyb5r4	A	G	9: 86,909,091 (GRCm39)	E56G	possibly damaging	Het
Dennd2a	A	G	6: 39,470,037 (GRCm39)	Y552H	probably benign	Het
Dennd4a	A	G	9: 64,759,713 (GRCm39)	I273V	probably damaging	Het
Dkk2	A	G	3: 131,883,629 (GRCm39)		probably null	Het
Dnaja2	A	C	8: 86,265,905 (GRCm39)	D393E	probably benign	Het
Dscc1	T	A	15: 54,939,561 (GRCm39)	I461F	possibly damaging	Het
Dspp	A	T	5: 104,325,736 (GRCm39)	S700C	unknown	Het
Ect2	T	A	3: 27,185,947 (GRCm39)	H512L	probably damaging	Het
Eif1b	A	G	9: 120,323,277 (GRCm39)	T46A	possibly damaging	Het
Fez1	C	A	9: 36,781,796 (GRCm39)	P347H	probably damaging	Het
Fgd5	G	A	6: 92,026,912 (GRCm39)		probably null	Het
Flad1	T	A	3: 89,310,758 (GRCm39)	I430F	probably damaging	Het
Gal3st2b	T	C	1: 93,868,614 (GRCm39)	Y282H	probably damaging	Het
Gm29106	T	A	1: 118,127,137 (GRCm39)	N276K	possibly damaging	Het
Gm36176	C	A	10: 77,682,686 (GRCm39)	S16Y	unknown	Het
Gm5624	T	C	14: 44,799,390 (GRCm39)	R56G	possibly damaging	Het
Gpatch11	A	C	17: 79,146,484 (GRCm39)	Q43P	probably benign	Het
Gtpbp2	A	G	17: 46,477,361 (GRCm39)	T409A	probably benign	Het
Hmcn2	T	C	2: 31,272,357 (GRCm39)	I1279T	probably benign	Het
Itih3	T	A	14: 30,639,287 (GRCm39)	N429Y	probably benign	Het
Lrp5	A	G	19: 3,736,353 (GRCm39)		probably null	Het
Lrrc34	T	A	3: 30,697,452 (GRCm39)	Y93F	probably benign	Het
Lypd9	T	C	11: 58,338,269 (GRCm39)	N41S	probably benign	Het
Malrd1	T	A	2: 15,876,265 (GRCm39)	V1404D	unknown	Het
Med1	T	C	11: 98,046,218 (GRCm39)	N1526S	unknown	Het
Myt1l	A	G	12: 29,876,868 (GRCm39)	D173G	unknown	Het
Nckap1l	A	T	15: 103,371,012 (GRCm39)	H197L	probably damaging	Het
Nipa1	T	C	7: 55,629,372 (GRCm39)	E247G	probably damaging	Het
Nmrk1	A	T	19: 18,619,542 (GRCm39)	R132*	probably null	Het
Nrap	G	T	19: 56,308,715 (GRCm39)	A1700E	probably benign	Het
Odr4	T	C	1: 150,258,045 (GRCm39)	S197G	probably benign	Het
Or13p8	T	A	4: 118,583,504 (GRCm39)	F20Y	probably damaging	Het
Or8g32	A	T	9: 39,305,389 (GRCm39)	M98L	probably benign	Het
Padi6	T	C	4: 140,456,306 (GRCm39)	T563A	probably benign	Het
Pcdhb19	G	A	18: 37,631,788 (GRCm39)	E528K	probably damaging	Het
Pcnt	T	C	10: 76,223,356 (GRCm39)	D1942G	probably benign	Het
Pcnx2	C	T	8: 126,545,510 (GRCm39)	W1167*	probably null	Het
Pkp3	C	T	7: 140,658,292 (GRCm39)	T19I	probably benign	Het
Plekhg5	T	C	4: 152,188,755 (GRCm39)	L199P	probably damaging	Het
Rasal1	A	G	5: 120,800,249 (GRCm39)	T171A	probably benign	Het
Rgsl1	T	C	1: 153,701,225 (GRCm39)	I410V	probably benign	Het
Scart2	T	C	7: 139,874,725 (GRCm39)	V401A	possibly damaging	Het
Sftpa1	C	A	14: 40,856,169 (GRCm39)	N171K	probably damaging	Het
Slc5a9	A	T	4: 111,734,737 (GRCm39)	*686R	probably null	Het
Smap1	A	T	1: 23,916,855 (GRCm39)	N91K	probably damaging	Het
Tenm3	A	G	8: 48,788,762 (GRCm39)	S695P	probably benign	Het
Thoc3	A	T	13: 54,611,617 (GRCm39)	H223Q	probably damaging	Het
Tmco4	T	C	4: 138,737,872 (GRCm39)	F156L	probably benign	Het
Tmem30a	C	T	9: 79,682,513 (GRCm39)	V188I	probably benign	Het
Trim27	T	A	13: 21,376,328 (GRCm39)	C359S	probably benign	Het
Trrap	A	G	5: 144,769,321 (GRCm39)	T2609A	probably benign	Het
Ttn	A	G	2: 76,692,744 (GRCm39)	V446A		Het
Vat1l	T	A	8: 115,009,084 (GRCm39)	Y273N	probably damaging	Het
Vmn1r129	T	A	7: 21,094,552 (GRCm39)	H222L	possibly damaging	Het
Vmn2r19	A	G	6: 123,308,521 (GRCm39)	T533A	probably benign	Het
Vmn2r77	T	A	7: 86,460,492 (GRCm39)	L606*	probably null	Het
Vmn2r93	G	T	17: 18,525,631 (GRCm39)	V430L	probably benign	Het
Vps50	T	A	6: 3,562,304 (GRCm39)	N466K	probably damaging	Het
Zfp507	A	T	7: 35,487,229 (GRCm39)	Y746*	probably null	Het
Zfp521	A	C	18: 13,977,173 (GRCm39)	L1080R	probably damaging	Het
Zfp74	A	G	7: 29,653,278 (GRCm39)		probably null	Het
Zfp831	G	A	2: 174,487,934 (GRCm39)	A870T	possibly damaging	Het
Zfp936	A	T	7: 42,839,336 (GRCm39)	K268*	probably null	Het
Zhx2	C	A	15: 57,685,572 (GRCm39)	R314S	probably damaging	Het
Zkscan16	A	T	4: 58,957,679 (GRCm39)	K654*	probably null	Het

Other mutations in Fam114a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Fam114a2	APN	11	57,378,413 (GRCm39)	missense	probably damaging	1.00
IGL00943:Fam114a2	APN	11	57,405,099 (GRCm39)	start codon destroyed	probably null	1.00
IGL01809:Fam114a2	APN	11	57,404,461 (GRCm39)	critical splice donor site	probably null
IGL01972:Fam114a2	APN	11	57,400,220 (GRCm39)	missense	probably damaging	1.00
IGL02541:Fam114a2	APN	11	57,390,627 (GRCm39)	missense	probably benign	0.41
R0010:Fam114a2	UTSW	11	57,404,982 (GRCm39)	missense	probably damaging	1.00
R1594:Fam114a2	UTSW	11	57,404,066 (GRCm39)	critical splice donor site	probably null
R1645:Fam114a2	UTSW	11	57,390,621 (GRCm39)	missense	probably benign	0.00
R2426:Fam114a2	UTSW	11	57,383,906 (GRCm39)	missense	probably benign	0.00
R3021:Fam114a2	UTSW	11	57,390,625 (GRCm39)	missense	probably benign	0.01
R3107:Fam114a2	UTSW	11	57,390,561 (GRCm39)	missense	probably benign	0.39
R6149:Fam114a2	UTSW	11	57,378,415 (GRCm39)	missense	probably benign	0.05
R6248:Fam114a2	UTSW	11	57,383,942 (GRCm39)	missense	possibly damaging	0.51
R6306:Fam114a2	UTSW	11	57,404,972 (GRCm39)	missense	probably damaging	1.00
R6933:Fam114a2	UTSW	11	57,374,897 (GRCm39)	missense	probably benign	0.04
R7485:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7486:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7487:Fam114a2	UTSW	11	57,404,515 (GRCm39)	missense	probably damaging	1.00
R7531:Fam114a2	UTSW	11	57,404,542 (GRCm39)	missense	probably benign
R7601:Fam114a2	UTSW	11	57,405,042 (GRCm39)	missense	possibly damaging	0.62
R8033:Fam114a2	UTSW	11	57,398,333 (GRCm39)	missense	probably damaging	0.99
R9335:Fam114a2	UTSW	11	57,397,748 (GRCm39)	missense	possibly damaging	0.94
RF024:Fam114a2	UTSW	11	57,383,859 (GRCm39)	missense	probably benign	0.00
Z1177:Fam114a2	UTSW	11	57,404,084 (GRCm39)	missense	probably benign	0.05
Z1186:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1186:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1186:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1186:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1186:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1187:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1187:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1188:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1188:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1188:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1188:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1188:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1189:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1189:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1189:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1190:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1190:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1190:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1191:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1191:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1191:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,390,581 (GRCm39)	missense	probably benign	0.04
Z1192:Fam114a2	UTSW	11	57,380,940 (GRCm39)	missense	probably benign	0.03
Z1192:Fam114a2	UTSW	11	57,374,858 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,405,060 (GRCm39)	missense	probably benign
Z1192:Fam114a2	UTSW	11	57,390,623 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACTCCTCTATGCACTGGGG -3'
(R):5'- TTGCATCAGCCGCTCTTCAG -3'

Sequencing Primer
(F):5'- TCTATGCACTGGGGCTCACTG -3'
(R):5'- ATTTGCTCAAACAGGCCTGG -3'

Posted On

2019-11-12