Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Ninl'

715615

Institutional Source

Beutler Lab

Gene Symbol

Ninl

Ensembl Gene

ENSMUSG00000068115

Gene Name

ninein-like

Synonyms

LOC381388, 4930519N13Rik, LOC381387

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150776439-150851330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150782726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 170 (S170T)

Ref Sequence

ENSEMBL: ENSMUSP00000122069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109896] [ENSMUST00000124135]

AlphaFold

Q6ZQ12

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109896
AA Change: S1155T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105522
Gene: ENSMUSG00000068115
AA Change: S1155T

Domain	Start	End	E-Value	Type
EFh	12	40	6.56e0	SMART
low complexity region	76	93	N/A	INTRINSIC
EFh	201	229	4.45e1	SMART
EFh	238	266	8.98e-4	SMART
low complexity region	295	306	N/A	INTRINSIC
coiled coil region	381	423	N/A	INTRINSIC
coiled coil region	461	517	N/A	INTRINSIC
coiled coil region	541	584	N/A	INTRINSIC
coiled coil region	620	699	N/A	INTRINSIC
coiled coil region	728	751	N/A	INTRINSIC
coiled coil region	835	863	N/A	INTRINSIC
coiled coil region	1058	1334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124135
AA Change: S170T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122069
Gene: ENSMUSG00000068115
AA Change: S170T

Domain	Start	End	E-Value	Type
coiled coil region	16	61	N/A	INTRINSIC
coiled coil region	92	266	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit bone-marrow myeloid hyperplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 78,903,565 (GRCm39)	K250N	probably damaging	Het
Adam5	A	T	8: 25,237,540 (GRCm39)	D623E	possibly damaging	Het
Akt3	T	C	1: 176,852,952 (GRCm39)	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,805,617 (GRCm39)	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,616,927 (GRCm39)	T908S	probably benign	Het
Clec7a	G	A	6: 129,440,126 (GRCm39)	Q160*	probably null	Het
Cntnap4	T	A	8: 113,460,103 (GRCm39)	I152N	probably damaging	Het
Ctdspl	C	T	9: 118,866,445 (GRCm39)	A179V	probably damaging	Het
Ddx43	T	C	9: 78,313,668 (GRCm39)	S200P	probably damaging	Het
Dip2c	A	G	13: 9,544,963 (GRCm39)	D84G	unknown	Het
Dmbt1	G	A	7: 130,675,987 (GRCm39)	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,603,050 (GRCm39)	T355I	probably damaging	Het
E2f7	C	A	10: 110,614,918 (GRCm39)	L541M	probably damaging	Het
Elovl5	T	A	9: 77,890,007 (GRCm39)	S273T	possibly damaging	Het
Emc1	T	A	4: 139,093,705 (GRCm39)	L605Q	probably damaging	Het
Fras1	T	A	5: 96,887,124 (GRCm39)	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,265,690 (GRCm39)	G195E	probably damaging	Het
Galm	A	G	17: 80,457,561 (GRCm39)	D199G	possibly damaging	Het
Galntl6	T	G	8: 58,230,359 (GRCm39)	S20R	probably damaging	Het
Grb14	T	G	2: 64,768,744 (GRCm39)	Y189S	probably damaging	Het
Hk2	T	A	6: 82,705,895 (GRCm39)	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,506,471 (GRCm39)	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,796,403 (GRCm39)	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,276,639 (GRCm39)	K68N	possibly damaging	Het
Inhba	A	C	13: 16,192,263 (GRCm39)	E128A	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl3	G	A	13: 58,167,273 (GRCm39)	P364S	probably damaging	Het
Lhpp	T	C	7: 132,243,312 (GRCm39)	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,491,599 (GRCm39)	A223S	probably damaging	Het
Lrp3	A	G	7: 34,903,489 (GRCm39)	F286L	probably damaging	Het
Lrrc7	T	C	3: 157,841,028 (GRCm39)	T1337A	probably benign	Het
Magi2	A	G	5: 20,400,019 (GRCm39)	D17G	probably benign	Het
Map3k21	T	C	8: 126,650,903 (GRCm39)	S302P	probably damaging	Het
Matcap2	T	C	9: 22,343,015 (GRCm39)	M303T	probably damaging	Het
Mbtd1	A	G	11: 93,816,511 (GRCm39)	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,916,820 (GRCm39)	D306E	possibly damaging	Het
Muc20	T	C	16: 32,614,453 (GRCm39)	E308G	probably damaging	Het
Myh13	G	A	11: 67,255,712 (GRCm39)	S34N		Het
Nebl	C	A	2: 17,374,421 (GRCm39)	G894*	probably null	Het
Nelfa	A	G	5: 34,056,095 (GRCm39)	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,341,076 (GRCm39)	D13G	probably benign	Het
Nlrp4c	G	A	7: 6,068,626 (GRCm39)	V176M	possibly damaging	Het
Nobox	G	A	6: 43,284,115 (GRCm39)	R144C	probably damaging	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or4a81	A	C	2: 89,619,506 (GRCm39)	Y63*	probably null	Het
Or52z15	A	T	7: 103,332,477 (GRCm39)	Y184F	probably damaging	Het
Or5w20	T	C	2: 87,726,693 (GRCm39)	M50T	probably benign	Het
Or6z1	A	G	7: 6,505,150 (GRCm39)	L25P	probably benign	Het
Or7c70	T	C	10: 78,682,891 (GRCm39)	N286S	probably damaging	Het
Or8h9	A	G	2: 86,789,757 (GRCm39)	M15T	probably benign	Het
Orai1	A	G	5: 123,167,301 (GRCm39)	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,398,967 (GRCm39)	V121L	probably benign	Het
Pclo	T	C	5: 14,571,250 (GRCm39)	S212P	possibly damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Plg	A	G	17: 12,622,024 (GRCm39)	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,116,866 (GRCm39)	N330K	probably damaging	Het
Pou2f2	A	G	7: 24,794,247 (GRCm39)	L373S	probably benign	Het
Rnpep	A	G	1: 135,211,341 (GRCm39)	F136L	probably benign	Het
Rp1	A	G	1: 4,162,838 (GRCm39)		probably null	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 75,986,238 (GRCm39)		probably benign	Het
Slc5a5	T	C	8: 71,337,596 (GRCm39)	D574G	probably benign	Het
Slc7a15	T	A	12: 8,588,794 (GRCm39)	N251I	probably damaging	Het
Speer4a3	A	T	5: 26,158,136 (GRCm39)	I72N	probably damaging	Het
Susd4	T	C	1: 182,719,665 (GRCm39)	S427P	probably benign	Het
Tarbp1	T	A	8: 127,155,779 (GRCm39)	T1320S	probably benign	Het
Tbpl2	C	T	2: 23,984,650 (GRCm39)	V166I	probably benign	Het
Thbs1	T	C	2: 117,950,518 (GRCm39)		probably null	Het
Tnfsf13b	A	G	8: 10,081,648 (GRCm39)	Y270C	probably damaging	Het
Vps11	G	T	9: 44,260,290 (GRCm39)	C857*	probably null	Het
Vsig10	G	A	5: 117,463,104 (GRCm39)	R110H	probably benign	Het
Wee2	T	A	6: 40,432,044 (GRCm39)	Y204*	probably null	Het
Zfpm2	T	A	15: 40,966,867 (GRCm39)	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,234,472 (GRCm39)	N166S	probably benign	Het

Other mutations in Ninl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Ninl	APN	2	150,808,161 (GRCm39)	missense	probably damaging	0.98
IGL01697:Ninl	APN	2	150,781,867 (GRCm39)	missense	probably damaging	1.00
IGL01756:Ninl	APN	2	150,821,436 (GRCm39)	missense	probably damaging	1.00
IGL01925:Ninl	APN	2	150,812,979 (GRCm39)	missense	probably damaging	1.00
IGL02341:Ninl	APN	2	150,786,525 (GRCm39)	nonsense	probably null
IGL02838:Ninl	APN	2	150,797,631 (GRCm39)	splice site	probably null
IGL02868:Ninl	APN	2	150,778,974 (GRCm39)	missense	probably benign
IGL03116:Ninl	APN	2	150,806,139 (GRCm39)	missense	probably damaging	1.00
IGL03396:Ninl	APN	2	150,808,132 (GRCm39)	missense	possibly damaging	0.88
R0117:Ninl	UTSW	2	150,779,593 (GRCm39)	missense	probably damaging	0.98
R0685:Ninl	UTSW	2	150,781,775 (GRCm39)	missense	possibly damaging	0.73
R0928:Ninl	UTSW	2	150,805,395 (GRCm39)	missense	probably damaging	0.99
R1051:Ninl	UTSW	2	150,812,046 (GRCm39)	missense	probably damaging	1.00
R1441:Ninl	UTSW	2	150,813,044 (GRCm39)	missense	probably benign	0.10
R1493:Ninl	UTSW	2	150,822,015 (GRCm39)	missense	probably damaging	1.00
R1499:Ninl	UTSW	2	150,822,096 (GRCm39)	missense	possibly damaging	0.70
R1539:Ninl	UTSW	2	150,817,867 (GRCm39)	missense	probably damaging	1.00
R1658:Ninl	UTSW	2	150,806,079 (GRCm39)	missense	probably damaging	1.00
R2038:Ninl	UTSW	2	150,817,763 (GRCm39)	nonsense	probably null
R2156:Ninl	UTSW	2	150,786,503 (GRCm39)	missense	probably damaging	1.00
R2232:Ninl	UTSW	2	150,791,970 (GRCm39)	missense	probably benign	0.00
R2373:Ninl	UTSW	2	150,822,037 (GRCm39)	missense	probably damaging	1.00
R3743:Ninl	UTSW	2	150,792,168 (GRCm39)	missense	probably benign	0.01
R3906:Ninl	UTSW	2	150,822,039 (GRCm39)	missense	probably damaging	1.00
R3950:Ninl	UTSW	2	150,794,408 (GRCm39)	missense	possibly damaging	0.90
R4283:Ninl	UTSW	2	150,795,336 (GRCm39)	unclassified	probably benign
R4798:Ninl	UTSW	2	150,801,801 (GRCm39)	nonsense	probably null
R4963:Ninl	UTSW	2	150,781,829 (GRCm39)	missense	probably benign	0.04
R4998:Ninl	UTSW	2	150,795,284 (GRCm39)	missense	probably damaging	1.00
R5343:Ninl	UTSW	2	150,813,110 (GRCm39)	missense	probably benign	0.01
R5810:Ninl	UTSW	2	150,792,088 (GRCm39)	missense	probably benign	0.31
R5825:Ninl	UTSW	2	150,782,644 (GRCm39)	missense	probably damaging	1.00
R6436:Ninl	UTSW	2	150,808,098 (GRCm39)	missense	probably damaging	1.00
R6728:Ninl	UTSW	2	150,817,777 (GRCm39)	nonsense	probably null
R6734:Ninl	UTSW	2	150,787,003 (GRCm39)	critical splice donor site	probably null
R6997:Ninl	UTSW	2	150,808,145 (GRCm39)	missense	probably benign	0.08
R7135:Ninl	UTSW	2	150,797,524 (GRCm39)	missense	probably benign	0.00
R7157:Ninl	UTSW	2	150,791,263 (GRCm39)	missense	possibly damaging	0.63
R7315:Ninl	UTSW	2	150,791,970 (GRCm39)	missense	probably benign	0.00
R7840:Ninl	UTSW	2	150,808,016 (GRCm39)	missense	probably benign	0.00
R8134:Ninl	UTSW	2	150,792,234 (GRCm39)	missense	probably benign	0.01
R8319:Ninl	UTSW	2	150,801,827 (GRCm39)	missense	probably damaging	1.00
R8802:Ninl	UTSW	2	150,777,172 (GRCm39)	missense	probably damaging	1.00
R8997:Ninl	UTSW	2	150,801,816 (GRCm39)	missense	probably damaging	0.98
R9231:Ninl	UTSW	2	150,792,129 (GRCm39)	missense	probably benign
R9465:Ninl	UTSW	2	150,782,726 (GRCm39)	missense	possibly damaging	0.83
R9571:Ninl	UTSW	2	150,791,803 (GRCm39)	missense	probably benign
R9789:Ninl	UTSW	2	150,791,701 (GRCm39)	missense	probably benign	0.05
X0062:Ninl	UTSW	2	150,811,966 (GRCm39)	missense	probably damaging	1.00
Z1177:Ninl	UTSW	2	150,795,318 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCAAGGTTTGTGGGACAG -3'
(R):5'- TTTAGGAACGAAGCAGCTACAG -3'

Sequencing Primer
(F):5'- TTTGTGGGACAGCCTAGCC -3'
(R):5'- GGAAAGATTCCCAGAAACCTTCTAGG -3'

Posted On

2022-06-15