Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Fam169a'

443454

Institutional Source

Beutler Lab

Gene Symbol

Fam169a

Ensembl Gene

ENSMUSG00000041817

Gene Name

family with sequence similarity 169, member A

Synonyms

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97067286-97131013 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97093618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 54 (F54L)

Ref Sequence

ENSEMBL: ENSMUSP00000126209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042517] [ENSMUST00000071118] [ENSMUST00000169863]

AlphaFold

Q5XG69

Predicted Effect

probably damaging
Transcript: ENSMUST00000042517
AA Change: F54L

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

SMART Domains

Protein: ENSMUSP00000043738
Gene: ENSMUSG00000041817
AA Change: F54L

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071118

SMART Domains

Protein: ENSMUSP00000132645
Gene: ENSMUSG00000057762

Domain	Start	End	E-Value	Type
Pfam:MARVEL	19	132	2.2e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000169863
AA Change: F54L

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

SMART Domains

Protein: ENSMUSP00000126209
Gene: ENSMUSG00000041817
AA Change: F54L

Domain	Start	End	E-Value	Type
low complexity region	374	386	N/A	INTRINSIC
low complexity region	602	619	N/A	INTRINSIC
low complexity region	630	642	N/A	INTRINSIC
low complexity region	650	663	N/A	INTRINSIC

Meta Mutation Damage Score

0.3130

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,325,971	D1292V	probably benign	Het
Adcy2	A	T	13: 68,620,819	C1063*	probably null	Het
Adcy2	A	T	13: 68,642,569	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,500,515	D497G	probably benign	Het
Anks1b	A	C	10: 90,914,711	I195L	probably benign	Het
Asmt	G	T	X: 170,678,016	S377I	unknown	Het
C1s1	T	A	6: 124,540,950	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,392,854		probably benign	Het
Ccndbp1	T	C	2: 121,014,702		probably benign	Het
Cct8	T	C	16: 87,488,821	I250V	probably benign	Het
Cmya5	T	C	13: 93,098,176	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,217,103		probably benign	Het
Crybg3	A	G	16: 59,559,166	M575T	probably benign	Het
Dmp1	C	T	5: 104,207,086		probably benign	Het
Emc1	G	T	4: 139,375,380	R950L	probably damaging	Het
Enpep	T	C	3: 129,299,094		probably null	Het
Eya1	G	A	1: 14,183,252	T500I	probably damaging	Het
Fbxo8	A	G	8: 56,591,517	K285R	probably damaging	Het
Galnt1	A	T	18: 24,272,750	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,233		probably null	Het
Gm10800	T	A	2: 98,666,620	Y196F	probably benign	Het
Gmpr	T	A	13: 45,539,020		probably null	Het
Jrkl	C	T	9: 13,244,382	E425K	probably benign	Het
Kl	T	G	5: 150,988,466	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,734,582	R356S	probably null	Het
Lrig2	C	T	3: 104,464,072		probably null	Het
Lrrc47	A	G	4: 154,015,683	T239A	probably benign	Het
Map4k2	T	C	19: 6,345,642		probably benign	Het
Mon2	A	G	10: 123,008,239	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,990,002		probably null	Het
Mvk	G	T	5: 114,450,765	G144V	probably damaging	Het
Nasp	T	A	4: 116,605,805		probably benign	Het
Ndst4	A	C	3: 125,438,609	N276H	possibly damaging	Het
Nsmf	C	T	2: 25,056,067	P189S	probably damaging	Het
Nt5m	T	G	11: 59,852,823	D92E	probably benign	Het
Olfr1198	A	T	2: 88,746,750	I46N	probably damaging	Het
Olfr1285	T	C	2: 111,408,688		noncoding transcript	Het
Olfr981	T	G	9: 40,022,435	L14R	probably damaging	Het
Pan3	T	A	5: 147,455,172	I119N	probably damaging	Het
Pard6b	A	T	2: 168,098,626	S178C	probably damaging	Het
Parl	A	G	16: 20,287,978		probably benign	Het
Pdk2	A	G	11: 95,029,025		probably benign	Het
Prag1	A	G	8: 36,146,813	E1173G	probably benign	Het
Prph2	T	A	17: 46,923,465	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,693,669	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,105,707	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 88,806,484		noncoding transcript	Het
Rps8	G	C	4: 117,155,155		probably benign	Het
Samd4	A	G	14: 47,016,565	N61S	probably benign	Het
Sfrp2	G	A	3: 83,766,839	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc6a13	A	G	6: 121,302,741	T25A	probably benign	Het
Sntg1	C	A	1: 8,463,443	R329L	possibly damaging	Het
Sorbs2	T	C	8: 45,775,632	F285L	probably damaging	Het
Speg	T	C	1: 75,419,129		probably null	Het
Srgap1	T	C	10: 121,825,636	Y533C	probably damaging	Het
Supt5	C	A	7: 28,317,763	S668I	probably benign	Het
Taf6l	T	G	19: 8,773,312	I133L	probably benign	Het
Tcrg-C1	A	T	13: 19,216,559	I153F	unknown	Het
Thrap3	G	A	4: 126,180,486		probably benign	Het
Tmem115	A	G	9: 107,534,855	N126S	probably benign	Het
Tspoap1	T	A	11: 87,777,126	I1192N	probably damaging	Het
Vcan	T	C	13: 89,678,134	I3184V	probably damaging	Het
Yeats4	G	A	10: 117,215,680	T224M	probably benign	Het
Zc3h13	A	T	14: 75,331,960	R1416*	probably null	Het
Zmynd12	T	A	4: 119,441,901	Y193N	probably damaging	Het

Other mutations in Fam169a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Fam169a	APN	13	97122699	missense	probably benign	0.00
IGL01380:Fam169a	APN	13	97091951	missense	probably damaging	0.97
IGL01761:Fam169a	APN	13	97091918	missense	possibly damaging	0.92
IGL02628:Fam169a	APN	13	97111288	splice site	probably benign
IGL02739:Fam169a	APN	13	97094055	splice site	probably benign
IGL03171:Fam169a	APN	13	97110014	splice site	probably benign
IGL03306:Fam169a	APN	13	97106989	missense	possibly damaging	0.66
IGL03377:Fam169a	APN	13	97091873	missense	probably benign	0.04
IGL02980:Fam169a	UTSW	13	97113680	critical splice donor site	probably null
R0282:Fam169a	UTSW	13	97097715	splice site	probably benign
R1319:Fam169a	UTSW	13	97097562	missense	probably damaging	1.00
R1468:Fam169a	UTSW	13	97118530	missense	probably benign	0.01
R1468:Fam169a	UTSW	13	97118530	missense	probably benign	0.01
R2037:Fam169a	UTSW	13	97107092	missense	probably benign	0.37
R2380:Fam169a	UTSW	13	97118535	splice site	probably benign
R3805:Fam169a	UTSW	13	97097684	missense	probably benign	0.00
R4434:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4435:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4437:Fam169a	UTSW	13	97126740	missense	probably damaging	1.00
R4590:Fam169a	UTSW	13	97097585	missense	probably benign	0.02
R4896:Fam169a	UTSW	13	97097592	missense	probably damaging	1.00
R5004:Fam169a	UTSW	13	97097592	missense	probably damaging	1.00
R5276:Fam169a	UTSW	13	97118496	missense	probably benign	0.01
R5370:Fam169a	UTSW	13	97106962	missense	probably damaging	1.00
R6151:Fam169a	UTSW	13	97093630	missense	probably damaging	1.00
R7711:Fam169a	UTSW	13	97126688	nonsense	probably null
R8322:Fam169a	UTSW	13	97122752	missense	probably benign	0.00
R8493:Fam169a	UTSW	13	97122859	missense	probably benign	0.00
R8698:Fam169a	UTSW	13	97107070	missense	probably damaging	1.00
R8794:Fam169a	UTSW	13	97114120	missense	possibly damaging	0.85
R9231:Fam169a	UTSW	13	97118459	missense	probably benign	0.08
R9479:Fam169a	UTSW	13	97110035	missense	possibly damaging	0.68
R9479:Fam169a	UTSW	13	97114187	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AGAAGCTGCTTTCATTGTTGC -3'
(R):5'- ACCCGTTTTCAAACCCACTG -3'

Sequencing Primer
(F):5'- AAGCTGCTTTCATTGTTGCTTTTTG -3'
(R):5'- GTTTTCAAACCCACTGCATTCAC -3'

Posted On

2016-11-09