Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Fam227a'

238451

Institutional Source

Beutler Lab

Gene Symbol

Fam227a

Ensembl Gene

ENSMUSG00000042564

Gene Name

family with sequence similarity 227, member A

Synonyms

4933432B09Rik

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2197 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

79609576-79658956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79623467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 454 (T454M)

Ref Sequence

ENSEMBL: ENSMUSP00000155261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109646] [ENSMUST00000109648] [ENSMUST00000187519] [ENSMUST00000191401] [ENSMUST00000229064] [ENSMUST00000230366]

AlphaFold

Q9D3V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109646
AA Change: T102M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105273
Gene: ENSMUSG00000042564
AA Change: T102M

Domain	Start	End	E-Value	Type
low complexity region	156	175	N/A	INTRINSIC
low complexity region	204	211	N/A	INTRINSIC
low complexity region	243	253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109648
AA Change: T458M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105275
Gene: ENSMUSG00000042564
AA Change: T458M

Domain	Start	End	E-Value	Type
Pfam:FWWh	134	295	1.4e-51	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187519
AA Change: T458M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139524
Gene: ENSMUSG00000042564
AA Change: T458M

Domain	Start	End	E-Value	Type
Pfam:FWWh	132	295	1e-47	PFAM
low complexity region	512	531	N/A	INTRINSIC
low complexity region	560	567	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191401

Predicted Effect

probably damaging
Transcript: ENSMUST00000229064
AA Change: T454M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000230366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230429

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231122

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,769,924	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,455,592	D875E	probably damaging	Het
Arf3	T	C	15: 98,741,404	N60S	probably benign	Het
Atxn2	T	G	5: 121,806,217		probably null	Het
B3gnt8	A	T	7: 25,628,948	I268F	probably benign	Het
Bmp1	T	A	14: 70,486,272	D708V	possibly damaging	Het
C1s2	A	G	6: 124,632,110	S163P	probably damaging	Het
C3	A	G	17: 57,219,623	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,527,403	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,023,053	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,984,232	M192K	possibly damaging	Het
Cdc5l	A	T	17: 45,407,819	F624I	probably benign	Het
Cdh8	T	A	8: 99,196,265	Q333L	probably damaging	Het
Ciapin1	T	A	8: 94,829,159	K128*	probably null	Het
Col6a3	T	A	1: 90,803,745	E988D	probably benign	Het
Crip3	A	G	17: 46,429,412	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,614,793	S753P	possibly damaging	Het
Dock6	T	A	9: 21,832,881	D126V	probably damaging	Het
Dvl3	A	G	16: 20,523,756	E153G	probably damaging	Het
Epas1	A	T	17: 86,829,043	M748L	probably benign	Het
Exoc8	A	G	8: 124,895,738	L630P	probably damaging	Het
Flnc	A	T	6: 29,459,135	D2472V	probably damaging	Het
Galnt4	G	A	10: 99,108,647	G78E	probably damaging	Het
Ghr	A	T	15: 3,333,474	L172*	probably null	Het
Gjb5	A	T	4: 127,356,270		probably null	Het
Gm4981	T	A	10: 58,236,336	I19F	possibly damaging	Het
Hdac5	T	C	11: 102,204,514	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,183,302		probably null	Het
Kcnab1	T	C	3: 65,109,947	I59T	probably benign	Het
Kcnh7	A	G	2: 62,777,606	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,146,936	S765P	probably damaging	Het
Lama1	A	T	17: 67,752,941	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,978,527		probably benign	Het
Llgl1	T	C	11: 60,710,039	S654P	possibly damaging	Het
Lvrn	G	T	18: 46,878,342	M455I	probably benign	Het
Mfsd12	T	A	10: 81,357,734	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,366,432	M783K	probably benign	Het
Mthfd1l	A	T	10: 4,028,399	T420S	probably damaging	Het
Mybphl	T	A	3: 108,377,319	I294N	probably damaging	Het
Olfr1263	G	A	2: 90,015,424	G165S	probably damaging	Het
Olfr1307	T	C	2: 111,945,313	T48A	possibly damaging	Het
Olfr598	T	A	7: 103,328,624	L46*	probably null	Het
Oxa1l	A	T	14: 54,361,467	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,146,132	I722F	probably damaging	Het
Pde4d	A	G	13: 109,948,390	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,726,990		probably benign	Het
Rab11fip3	A	G	17: 26,068,178	S334P	probably benign	Het
Ror2	C	T	13: 53,285,780		probably null	Het
Scnn1g	G	C	7: 121,767,296	W572S	probably damaging	Het
Skint5	G	A	4: 113,940,849	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,599,062	G175V	probably damaging	Het
Spaca6	G	A	17: 17,836,154		probably null	Het
Tbc1d30	C	T	10: 121,304,407	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,259,865	I829T	probably benign	Het
Tmcc3	T	C	10: 94,578,918	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,716,354	V189A	probably benign	Het
Tmem248	A	G	5: 130,231,756	D54G	probably benign	Het
Trmt1	T	A	8: 84,690,858	S121T	probably damaging	Het
Tyk2	C	T	9: 21,115,207	V698M	probably damaging	Het
Usp17la	A	G	7: 104,860,712	R175G	probably damaging	Het
Vav1	A	G	17: 57,303,140	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,428,825		probably null	Het
Vmn2r78	A	G	7: 86,921,327	Y351C	probably damaging	Het

Other mutations in Fam227a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Fam227a	APN	15	79634073	missense	possibly damaging	0.66
IGL01807:Fam227a	APN	15	79649655	missense	probably benign	0.03
IGL01936:Fam227a	APN	15	79612546	missense	possibly damaging	0.90
IGL02355:Fam227a	APN	15	79643938	intron	probably benign
IGL02362:Fam227a	APN	15	79643938	intron	probably benign
IGL02569:Fam227a	APN	15	79634122	missense	probably benign
IGL02713:Fam227a	APN	15	79636796	splice site	probably benign
IGL02734:Fam227a	APN	15	79617841	splice site	probably benign
IGL02816:Fam227a	APN	15	79626296	missense	possibly damaging	0.66
IGL03354:Fam227a	APN	15	79636750	missense	possibly damaging	0.91
R0105:Fam227a	UTSW	15	79620832	missense	possibly damaging	0.90
R0194:Fam227a	UTSW	15	79640669	nonsense	probably null
R0437:Fam227a	UTSW	15	79643988	missense	possibly damaging	0.90
R0786:Fam227a	UTSW	15	79626268	missense	probably benign	0.01
R0925:Fam227a	UTSW	15	79620805	missense	probably benign	0.04
R1200:Fam227a	UTSW	15	79612537	missense	possibly damaging	0.66
R1424:Fam227a	UTSW	15	79634108	missense	probably benign	0.34
R1474:Fam227a	UTSW	15	79615381	missense	probably damaging	0.97
R1495:Fam227a	UTSW	15	79626245	missense	probably benign	0.00
R1561:Fam227a	UTSW	15	79636762	missense	possibly damaging	0.95
R1661:Fam227a	UTSW	15	79620677	splice site	probably null
R1669:Fam227a	UTSW	15	79620677	splice site	probably null
R1967:Fam227a	UTSW	15	79637134	missense	possibly damaging	0.93
R1976:Fam227a	UTSW	15	79626276	missense	possibly damaging	0.83
R2230:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2231:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2232:Fam227a	UTSW	15	79615381	missense	possibly damaging	0.66
R2910:Fam227a	UTSW	15	79636734	missense	possibly damaging	0.81
R3027:Fam227a	UTSW	15	79648733	splice site	probably null
R3943:Fam227a	UTSW	15	79620859	splice site	probably benign
R4811:Fam227a	UTSW	15	79615427	missense	possibly damaging	0.66
R4845:Fam227a	UTSW	15	79649711	missense	probably damaging	0.99
R4896:Fam227a	UTSW	15	79637054	missense	probably benign	0.32
R4934:Fam227a	UTSW	15	79637061	missense	possibly damaging	0.71
R4941:Fam227a	UTSW	15	79640003	critical splice donor site	probably null
R5225:Fam227a	UTSW	15	79636735	missense	possibly damaging	0.90
R5369:Fam227a	UTSW	15	79615436	missense	probably benign	0.27
R5593:Fam227a	UTSW	15	79640058	utr 3 prime	probably benign
R6311:Fam227a	UTSW	15	79640694	missense	probably benign	0.23
R6362:Fam227a	UTSW	15	79643350	missense	possibly damaging	0.53
R6532:Fam227a	UTSW	15	79636720	missense	probably benign	0.00
R7239:Fam227a	UTSW	15	79634062	critical splice donor site	probably null
R7619:Fam227a	UTSW	15	79617766	missense	probably benign
R7719:Fam227a	UTSW	15	79620712	missense	possibly damaging	0.53
R8006:Fam227a	UTSW	15	79634098	missense	possibly damaging	0.61
R8048:Fam227a	UTSW	15	79649758	start codon destroyed	probably null
R8175:Fam227a	UTSW	15	79640660	missense	probably damaging	0.97
R8439:Fam227a	UTSW	15	79630070	missense	possibly damaging	0.53
R9014:Fam227a	UTSW	15	79620757	missense	possibly damaging	0.96
R9034:Fam227a	UTSW	15	79648751	missense	probably benign	0.00
R9582:Fam227a	UTSW	15	79617777	missense	probably benign	0.33
R9613:Fam227a	UTSW	15	79634083	missense	probably benign	0.09
R9668:Fam227a	UTSW	15	79642243	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- AAATGTGAGGCTCCCCTGAG -3'
(R):5'- TGGAGTTCCCAGGGAGTTAC -3'

Sequencing Primer
(F):5'- TGAGCATAAGCACAGCTCTCTATC -3'
(R):5'- CAACTACTCCCAGTTGCA -3'

Posted On

2014-10-02