Mutagenetix > Incidental Mutation

Incidental Mutation 'R5436:Fam149a'

428352

Institutional Source

Beutler Lab

Gene Symbol

Fam149a

Ensembl Gene

ENSMUSG00000070044

Gene Name

family with sequence similarity 149, member A

Synonyms

MMRRC Submission

043001-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5436 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45789754-45835328 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45801508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 457 (S457T)

Ref Sequence

ENSEMBL: ENSMUSP00000114612 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093526] [ENSMUST00000155230]

AlphaFold

Q8CFV2

Predicted Effect

probably benign
Transcript: ENSMUST00000093526
AA Change: S538T

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091245
Gene: ENSMUSG00000070044
AA Change: S538T

Domain	Start	End	E-Value	Type
low complexity region	48	65	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	239	250	N/A	INTRINSIC
low complexity region	262	274	N/A	INTRINSIC
Pfam:DUF3719	305	370	4.3e-30	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000135912
AA Change: S491T

SMART Domains

Protein: ENSMUSP00000120196
Gene: ENSMUSG00000070044
AA Change: S491T

Domain	Start	End	E-Value	Type
low complexity region	59	85	N/A	INTRINSIC
low complexity region	90	108	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
Pfam:DUF3719	259	324	2.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155230
AA Change: S457T

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114612
Gene: ENSMUSG00000070044
AA Change: S457T

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	55	73	N/A	INTRINSIC
low complexity region	158	169	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC
Pfam:DUF3719	224	291	5.8e-28	PFAM

Meta Mutation Damage Score

0.1002

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (106/107)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	C	3: 59,754,114 (GRCm39)		noncoding transcript	Het
Abca9	G	A	11: 110,025,062 (GRCm39)	L994F	probably damaging	Het
Abl2	A	T	1: 156,457,450 (GRCm39)	S239C	probably damaging	Het
Acsl5	T	A	19: 55,267,997 (GRCm39)		probably null	Het
Aff1	C	T	5: 103,931,736 (GRCm39)	T126I	probably damaging	Het
Amtn	T	C	5: 88,529,485 (GRCm39)	L107P	probably damaging	Het
Ankrd45	A	G	1: 160,986,682 (GRCm39)		probably benign	Het
Arl6ip5	G	A	6: 97,187,887 (GRCm39)	V36I	probably damaging	Het
Ascc3	T	A	10: 50,535,079 (GRCm39)	D657E	probably damaging	Het
Ascl1	T	A	10: 87,328,808 (GRCm39)	Q48L	unknown	Het
Asic4	T	A	1: 75,427,963 (GRCm39)	V163E	probably benign	Het
Atm	A	T	9: 53,371,104 (GRCm39)	M2245K	probably benign	Het
Barx2	T	G	9: 31,824,285 (GRCm39)	T35P	probably damaging	Het
Bdh1	C	T	16: 31,275,475 (GRCm39)	R235C	probably damaging	Het
C8b	T	A	4: 104,657,546 (GRCm39)	Y404*	probably null	Het
Car5a	A	G	8: 122,643,981 (GRCm39)		probably benign	Het
Ccdc13	T	C	9: 121,628,109 (GRCm39)	I169M	probably benign	Het
Cd163	A	T	6: 124,304,923 (GRCm39)	D1100V	probably benign	Het
Cimap2	A	T	4: 106,467,690 (GRCm39)	H315Q	probably benign	Het
Cntfr	T	C	4: 41,663,322 (GRCm39)	N162D	probably damaging	Het
Cops3	T	G	11: 59,715,171 (GRCm39)	D289A	probably damaging	Het
Crbn	A	T	6: 106,772,861 (GRCm39)	S42R	probably damaging	Het
Cth	T	A	3: 157,600,463 (GRCm39)	H397L	probably benign	Het
Dact2	A	G	17: 14,416,010 (GRCm39)	L730P	probably damaging	Het
Dhx37	C	T	5: 125,506,867 (GRCm39)	G210R	probably benign	Het
Dnaaf9	C	A	2: 130,606,419 (GRCm39)	K415N	probably benign	Het
Dnah1	T	C	14: 31,038,704 (GRCm39)	I126V	probably benign	Het
Dnttip2	T	C	3: 122,072,418 (GRCm39)	I566T	probably damaging	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam110b	A	C	4: 5,799,104 (GRCm39)	Q174P	probably benign	Het
Fat3	A	C	9: 15,871,810 (GRCm39)	V3527G	probably benign	Het
Fat4	A	G	3: 38,945,495 (GRCm39)	M1463V	probably benign	Het
Gak	T	A	5: 108,740,218 (GRCm39)	I566F	possibly damaging	Het
Gdf10	T	A	14: 33,654,213 (GRCm39)	I240N	probably damaging	Het
Gprc6a	T	A	10: 51,502,798 (GRCm39)	H355L	probably benign	Het
Gxylt1	T	C	15: 93,145,780 (GRCm39)	K338R	probably damaging	Het
Hexim2	A	T	11: 103,029,095 (GRCm39)	E49V	probably null	Het
Hfm1	T	C	5: 107,040,638 (GRCm39)	D709G	possibly damaging	Het
Ighv1-49	T	C	12: 115,019,081 (GRCm39)	K19R	probably damaging	Het
Il17a	T	A	1: 20,803,870 (GRCm39)	Y88*	probably null	Het
Iqsec1	A	T	6: 90,822,343 (GRCm39)		probably benign	Het
Itih2	T	C	2: 10,110,007 (GRCm39)	D582G	probably benign	Het
Klc3	T	C	7: 19,131,884 (GRCm39)		probably null	Het
Larp4	T	A	15: 99,883,995 (GRCm39)	N78K	probably damaging	Het
Larp4b	A	G	13: 9,218,936 (GRCm39)	D526G	possibly damaging	Het
Limch1	T	C	5: 67,131,909 (GRCm39)	V133A	possibly damaging	Het
Lmbr1l	G	A	15: 98,802,672 (GRCm39)	R426C	probably damaging	Het
Lox	T	A	18: 52,662,175 (GRCm39)	D76V	probably benign	Het
Lrrc8d	T	A	5: 105,960,418 (GRCm39)	I276N	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Marchf10	A	T	11: 105,292,991 (GRCm39)	Y139N	possibly damaging	Het
Mrc1	T	G	2: 14,271,326 (GRCm39)	I410S	probably damaging	Het
Mrto4	A	T	4: 139,075,276 (GRCm39)	C176S	probably damaging	Het
Mtch1	G	T	17: 29,566,564 (GRCm39)	D66E	probably benign	Het
Nbas	T	G	12: 13,424,812 (GRCm39)	L1017R	probably damaging	Het
Nherf4	A	G	9: 44,159,652 (GRCm39)	V448A	possibly damaging	Het
Nim1k	A	G	13: 120,189,065 (GRCm39)		probably benign	Het
Nlrp6	T	A	7: 140,502,630 (GRCm39)	Y245*	probably null	Het
Or11g7	T	G	14: 50,691,184 (GRCm39)	V225G	probably damaging	Het
Or2t43	T	A	11: 58,457,763 (GRCm39)	H136L	probably benign	Het
Or4c3	T	A	2: 89,852,009 (GRCm39)	M134L	probably benign	Het
Or51q1	A	T	7: 103,628,473 (GRCm39)	I25F	probably benign	Het
Or5h24	C	T	16: 58,919,182 (GRCm39)	V58I	unknown	Het
Or8b1	A	C	9: 38,399,835 (GRCm39)	D170A	probably benign	Het
Pcare	A	T	17: 72,057,837 (GRCm39)	S613R	probably damaging	Het
Pcnx1	G	T	12: 81,907,180 (GRCm39)	G12V	probably damaging	Het
Pkp1	T	A	1: 135,846,656 (GRCm39)	K32M	probably damaging	Het
Poc5	T	C	13: 96,533,321 (GRCm39)	W150R	probably damaging	Het
Ppp1r16b	T	A	2: 158,599,253 (GRCm39)		probably benign	Het
Prune2	T	A	19: 16,998,007 (GRCm39)	M248K	probably damaging	Het
Rb1	A	T	14: 73,450,580 (GRCm39)		probably null	Het
Rhod	A	G	19: 4,476,615 (GRCm39)	C169R	probably benign	Het
Rif1	T	C	2: 52,010,983 (GRCm39)		probably benign	Het
Rnpc3	G	A	3: 113,418,648 (GRCm39)	A100V	probably damaging	Het
Rsf1	GCGGC	GCGGCGGCGTCGGC	7: 97,229,138 (GRCm39)		probably benign	Het
Scnn1a	A	T	6: 125,319,985 (GRCm39)	D528V	possibly damaging	Het
Sdhaf3	C	A	6: 7,038,855 (GRCm39)	T59K	probably benign	Het
Sec31a	C	A	5: 100,511,698 (GRCm39)	A330S	probably damaging	Het
Sgk3	A	G	1: 9,952,097 (GRCm39)	D241G	probably damaging	Het
Skint6	T	G	4: 112,953,788 (GRCm39)	I459L	probably benign	Het
Slco1a5	A	T	6: 142,200,118 (GRCm39)	V222E	probably damaging	Het
Slit3	T	A	11: 35,598,738 (GRCm39)	N1447K	probably benign	Het
Sorbs2	A	G	8: 46,249,038 (GRCm39)	H628R	probably damaging	Het
St6galnac2	A	G	11: 116,575,353 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,816,267 (GRCm39)	V667A	probably benign	Het
Tbx20	A	T	9: 24,681,016 (GRCm39)	Y159N	probably damaging	Het
Tmprss11b	T	A	5: 86,810,092 (GRCm39)	Q296L	probably benign	Het
Ttc6	T	A	12: 57,721,380 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,701,243 (GRCm39)		probably benign	Het
Tubgcp4	T	A	2: 121,018,617 (GRCm39)	L340H	probably damaging	Het
Tubgcp4	T	A	2: 121,024,663 (GRCm39)	F613I	probably benign	Het
Urb1	T	C	16: 90,589,650 (GRCm39)	Y377C	probably damaging	Het
Utp15	G	A	13: 98,397,354 (GRCm39)		probably null	Het
Vstm2b	A	G	7: 40,550,707 (GRCm39)		probably null	Het
Vwde	A	T	6: 13,190,627 (GRCm39)	V488D	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp276	A	T	8: 123,992,021 (GRCm39)		probably benign	Het
Zfp318	T	A	17: 46,723,975 (GRCm39)	S1993T	possibly damaging	Het
Zfp959	T	C	17: 56,204,626 (GRCm39)	L218P	probably benign	Het
Zxdc	A	G	6: 90,347,542 (GRCm39)	D301G	probably damaging	Het

Other mutations in Fam149a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:Fam149a	APN	8	45,792,380 (GRCm39)	missense	probably damaging	1.00
IGL00229:Fam149a	APN	8	45,804,823 (GRCm39)	missense	probably damaging	0.98
IGL01089:Fam149a	APN	8	45,801,564 (GRCm39)	missense	possibly damaging	0.95
IGL01578:Fam149a	APN	8	45,803,479 (GRCm39)	missense	probably damaging	1.00
IGL03095:Fam149a	APN	8	45,794,265 (GRCm39)	missense	probably damaging	1.00
IGL03112:Fam149a	APN	8	45,801,580 (GRCm39)	missense	possibly damaging	0.78
guangxi	UTSW	8	45,834,778 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Fam149a	UTSW	8	45,804,743 (GRCm39)	missense	probably benign	0.00
R0111:Fam149a	UTSW	8	45,794,183 (GRCm39)	splice site	probably benign
R0113:Fam149a	UTSW	8	45,794,061 (GRCm39)	missense	probably damaging	1.00
R0452:Fam149a	UTSW	8	45,808,686 (GRCm39)	missense	probably damaging	1.00
R0604:Fam149a	UTSW	8	45,798,045 (GRCm39)	missense	probably damaging	1.00
R1441:Fam149a	UTSW	8	45,808,684 (GRCm39)	missense	probably damaging	1.00
R1672:Fam149a	UTSW	8	45,792,411 (GRCm39)	critical splice acceptor site	probably null
R1861:Fam149a	UTSW	8	45,792,399 (GRCm39)	nonsense	probably null
R1981:Fam149a	UTSW	8	45,834,778 (GRCm39)	missense	probably damaging	1.00
R2173:Fam149a	UTSW	8	45,806,991 (GRCm39)	missense	probably damaging	1.00
R2211:Fam149a	UTSW	8	45,794,046 (GRCm39)	missense	probably damaging	0.99
R3807:Fam149a	UTSW	8	45,834,647 (GRCm39)	missense	possibly damaging	0.91
R4176:Fam149a	UTSW	8	45,794,321 (GRCm39)	missense	probably benign	0.41
R4913:Fam149a	UTSW	8	45,806,920 (GRCm39)	missense	probably damaging	1.00
R5158:Fam149a	UTSW	8	45,803,472 (GRCm39)	missense	possibly damaging	0.51
R5172:Fam149a	UTSW	8	45,797,690 (GRCm39)	missense	probably damaging	0.99
R6060:Fam149a	UTSW	8	45,811,799 (GRCm39)	intron	probably benign
R6426:Fam149a	UTSW	8	45,834,611 (GRCm39)	missense	probably benign
R6590:Fam149a	UTSW	8	45,802,071 (GRCm39)	missense	probably damaging	1.00
R6596:Fam149a	UTSW	8	45,834,667 (GRCm39)	missense	probably benign	0.25
R6690:Fam149a	UTSW	8	45,802,071 (GRCm39)	missense	probably damaging	1.00
R6730:Fam149a	UTSW	8	45,834,211 (GRCm39)	missense	probably damaging	1.00
R6734:Fam149a	UTSW	8	45,834,478 (GRCm39)	missense	probably benign
R6916:Fam149a	UTSW	8	45,803,443 (GRCm39)	missense	probably damaging	1.00
R7088:Fam149a	UTSW	8	45,803,582 (GRCm39)	missense	probably benign	0.08
R7219:Fam149a	UTSW	8	45,803,600 (GRCm39)	missense	possibly damaging	0.94
R7352:Fam149a	UTSW	8	45,794,034 (GRCm39)	missense	probably damaging	0.98
R7454:Fam149a	UTSW	8	45,801,583 (GRCm39)	missense	probably benign	0.29
R7591:Fam149a	UTSW	8	45,803,472 (GRCm39)	missense	possibly damaging	0.89
R7788:Fam149a	UTSW	8	45,834,554 (GRCm39)	missense	probably damaging	1.00
R7846:Fam149a	UTSW	8	45,811,678 (GRCm39)	missense
R7915:Fam149a	UTSW	8	45,794,280 (GRCm39)	missense	probably benign
R8036:Fam149a	UTSW	8	45,802,048 (GRCm39)	missense	probably benign	0.00
R8181:Fam149a	UTSW	8	45,834,755 (GRCm39)	missense	possibly damaging	0.92
R8239:Fam149a	UTSW	8	45,803,490 (GRCm39)	missense	possibly damaging	0.48
R8246:Fam149a	UTSW	8	45,834,655 (GRCm39)	missense	probably benign	0.00
R8532:Fam149a	UTSW	8	45,801,991 (GRCm39)	missense	possibly damaging	0.80
R8856:Fam149a	UTSW	8	45,834,611 (GRCm39)	missense
R8986:Fam149a	UTSW	8	45,811,837 (GRCm39)	missense
R9448:Fam149a	UTSW	8	45,792,411 (GRCm39)	critical splice acceptor site	probably null
R9704:Fam149a	UTSW	8	45,795,502 (GRCm39)	missense	probably benign	0.24
R9794:Fam149a	UTSW	8	45,834,449 (GRCm39)	missense	possibly damaging	0.47
Z1176:Fam149a	UTSW	8	45,795,495 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TTCCATGAGCTGTCCAGTG -3'
(R):5'- ACTGGAGTCTCTGCCTTCTG -3'

Sequencing Primer
(F):5'- ATGAGCTGTCCAGTGTCCCC -3'
(R):5'- GCATAAACTCATGGTAACTAAGGAC -3'

Posted On

2016-09-01